Canonical Allele Identifier: CA370429269

Gene: ASAH1

Linked Data

• MyVariant Identifiers: chr8:g.17918896T>G (hg19) ; chr8:g.18061387T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061387T>G , CM000670.2:g.18061387T>G	GRCh38
NC_000008.10:g.17918896T>G , CM000670.1:g.17918896T>G	GRCh37
NC_000008.9:g.17963176T>G	NCBI36
NG_008985.1:g.28612A>C
NG_008985.2:g.28612A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.823A>C	ENSP00000371152.4:p.Asn275His
ENST00000518746.2:n.2461A>C
ENST00000520781.6:c.700A>C	ENSP00000427751.1:p.Asn234His
ENST00000521542.2:n.83A>C
ENST00000635756.1:c.188A>C
ENST00000635944.1:c.*611A>C	ENSP00000490195.1:n.*611A>C
ENST00000635998.1:c.775A>C	ENSP00000490506.1:p.Asn259His
ENST00000636009.1:c.632A>C	ENSP00000489988.1:n.632A>C
ENST00000636033.1:c.*611A>C	ENSP00000489617.1:n.*611A>C
ENST00000636050.1:c.*618A>C	ENSP00000490562.1:n.*618A>C
ENST00000636128.1:c.454A>C	ENSP00000489789.1:p.Asn152His
ENST00000636160.1:c.*667A>C	ENSP00000489651.1:n.*667A>C
ENST00000636171.1:c.718A>C	ENSP00000489761.1:p.Asn240His
ENST00000636455.1:c.823A>C	ENSP00000490502.1:p.Asn275His
ENST00000636494.1:c.*555A>C	ENSP00000490388.1:n.*555A>C
ENST00000636563.1:n.437A>C
ENST00000636577.1:c.715A>C	ENSP00000490027.1:p.Asn239His
ENST00000636691.1:c.580A>C	ENSP00000490725.1:p.Asn194His
ENST00000636701.1:c.*426A>C	ENSP00000489800.1:n.*426A>C
ENST00000636815.1:c.692A>C
ENST00000636920.1:c.*611A>C	ENSP00000490437.1:n.*611A>C
ENST00000636997.1:c.688A>C	ENSP00000490093.1:p.Asn230His
ENST00000637013.1:c.*1143A>C	ENSP00000490596.1:n.*1143A>C
ENST00000637014.1:n.1182A>C
ENST00000637095.1:c.*555A>C	ENSP00000490415.1:n.*555A>C
ENST00000637244.1:c.*1293A>C	ENSP00000490188.1:n.*1293A>C
ENST00000637343.1:n.2212A>C
ENST00000637429.1:c.*987A>C	ENSP00000490522.1:n.*987A>C
ENST00000637484.1:c.*737A>C	ENSP00000490837.1:n.*737A>C
ENST00000637528.1:c.712A>C	ENSP00000490801.1:p.Asn238His
ENST00000637609.1:n.3496A>C
ENST00000637636.1:c.769A>C	ENSP00000490112.1:p.Asn257His
ENST00000637790.2:c.775A>C MANE Select	ENSP00000490272.1:p.Asn259His
ENST00000637857.1:n.1141A>C
ENST00000637922.1:c.580A>C	ENSP00000490071.1:p.Asn194His
ENST00000637991.1:c.748A>C	ENSP00000489901.1:p.Asn250His
ENST00000638028.1:n.992A>C
ENST00000638069.1:n.1596A>C
ENST00000262097.10:c.775A>C	ENSP00000262097.6:p.Asn259His
ENST00000314146.10:c.757A>C	ENSP00000326970.10:p.Asn253His
ENST00000381733.8:c.823A>C	ENSP00000371152.4:p.Asn275His
ENST00000519468.5:n.604A>C
ENST00000520781.5:c.700A>C	ENSP00000427751.1:p.Asn234His
ENST00000521542.1:n.488A>C
NM_001127505.1:c.757A>C	NP_001120977.1:p.Asn253His
NM_001127505.2:c.757A>C	NP_001120977.1:p.Asn253His
NM_004315.4:c.823A>C	NP_004306.3:p.Asn275His
NM_004315.5:c.823A>C	NP_004306.3:p.Asn275His
NM_177924.3:c.775A>C	NP_808592.2:p.Asn259His
NM_177924.4:c.775A>C	NP_808592.2:p.Asn259His
XM_005273504.2:c.709A>C	XP_005273561.1:p.Asn237His
NM_001363743.1:c.580A>C	NP_001350672.1:p.Asn194His
XM_005273504.3:c.709A>C	XP_005273561.1:p.Asn237His
NM_177924.5:c.775A>C MANE Select	NP_808592.2:p.Asn259His
NM_001127505.3:c.757A>C	NP_001120977.1:p.Asn253His
NM_001363743.2:c.580A>C	NP_001350672.1:p.Asn194His
NM_004315.6:c.823A>C	NP_004306.3:p.Asn275His