Canonical Allele Identifier: CA370429267

Gene: ASAH1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.823A>G	ENSP00000371152.4:p.Asn275Asp
ENST00000518746.2:n.2461A>G
ENST00000520781.6:c.700A>G	ENSP00000427751.1:p.Asn234Asp
ENST00000521542.2:n.83A>G
ENST00000635756.1:c.188A>G
ENST00000635944.1:c.*611A>G	ENSP00000490195.1:n.*611A>G
ENST00000635998.1:c.775A>G	ENSP00000490506.1:p.Asn259Asp
ENST00000636009.1:c.632A>G	ENSP00000489988.1:n.632A>G
ENST00000636033.1:c.*611A>G	ENSP00000489617.1:n.*611A>G
ENST00000636050.1:c.*618A>G	ENSP00000490562.1:n.*618A>G
ENST00000636128.1:c.454A>G	ENSP00000489789.1:p.Asn152Asp
ENST00000636160.1:c.*667A>G	ENSP00000489651.1:n.*667A>G
ENST00000636171.1:c.718A>G	ENSP00000489761.1:p.Asn240Asp
ENST00000636455.1:c.823A>G	ENSP00000490502.1:p.Asn275Asp
ENST00000636494.1:c.*555A>G	ENSP00000490388.1:n.*555A>G
ENST00000636563.1:n.437A>G
ENST00000636577.1:c.715A>G	ENSP00000490027.1:p.Asn239Asp
ENST00000636691.1:c.580A>G	ENSP00000490725.1:p.Asn194Asp
ENST00000636701.1:c.*426A>G	ENSP00000489800.1:n.*426A>G
ENST00000636815.1:c.692A>G
ENST00000636920.1:c.*611A>G	ENSP00000490437.1:n.*611A>G
ENST00000636997.1:c.688A>G	ENSP00000490093.1:p.Asn230Asp
ENST00000637013.1:c.*1143A>G	ENSP00000490596.1:n.*1143A>G
ENST00000637014.1:n.1182A>G
ENST00000637095.1:c.*555A>G	ENSP00000490415.1:n.*555A>G
ENST00000637244.1:c.*1293A>G	ENSP00000490188.1:n.*1293A>G
ENST00000637343.1:n.2212A>G
ENST00000637429.1:c.*987A>G	ENSP00000490522.1:n.*987A>G
ENST00000637484.1:c.*737A>G	ENSP00000490837.1:n.*737A>G
ENST00000637528.1:c.712A>G	ENSP00000490801.1:p.Asn238Asp
ENST00000637609.1:n.3496A>G
ENST00000637636.1:c.769A>G	ENSP00000490112.1:p.Asn257Asp
ENST00000637790.2:c.775A>G MANE Select	ENSP00000490272.1:p.Asn259Asp
ENST00000637857.1:n.1141A>G
ENST00000637922.1:c.580A>G	ENSP00000490071.1:p.Asn194Asp
ENST00000637991.1:c.748A>G	ENSP00000489901.1:p.Asn250Asp
ENST00000638028.1:n.992A>G
ENST00000638069.1:n.1596A>G
ENST00000262097.10:c.775A>G	ENSP00000262097.6:p.Asn259Asp
ENST00000314146.10:c.757A>G	ENSP00000326970.10:p.Asn253Asp
ENST00000381733.8:c.823A>G	ENSP00000371152.4:p.Asn275Asp
ENST00000519468.5:n.604A>G
ENST00000520781.5:c.700A>G	ENSP00000427751.1:p.Asn234Asp
ENST00000521542.1:n.488A>G
NM_001127505.1:c.757A>G	NP_001120977.1:p.Asn253Asp
NM_001127505.2:c.757A>G	NP_001120977.1:p.Asn253Asp
NM_004315.4:c.823A>G	NP_004306.3:p.Asn275Asp
NM_004315.5:c.823A>G	NP_004306.3:p.Asn275Asp
NM_177924.3:c.775A>G	NP_808592.2:p.Asn259Asp
NM_177924.4:c.775A>G	NP_808592.2:p.Asn259Asp
XM_005273504.2:c.709A>G	XP_005273561.1:p.Asn237Asp
NM_001363743.1:c.580A>G	NP_001350672.1:p.Asn194Asp
XM_005273504.3:c.709A>G	XP_005273561.1:p.Asn237Asp
NM_177924.5:c.775A>G MANE Select	NP_808592.2:p.Asn259Asp
NM_001127505.3:c.757A>G	NP_001120977.1:p.Asn253Asp
NM_001363743.2:c.580A>G	NP_001350672.1:p.Asn194Asp
NM_004315.6:c.823A>G	NP_004306.3:p.Asn275Asp