Canonical Allele Identifier: CA370427528

Gene: ASAH1

Linked Data

• MyVariant Identifiers: chr8:g.17916933T>A (hg19) ; chr8:g.18059424T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18059424T>A , CM000670.2:g.18059424T>A	GRCh38
NC_000008.10:g.17916933T>A , CM000670.1:g.17916933T>A	GRCh37
NC_000008.9:g.17961213T>A	NCBI36
NG_008985.1:g.30575A>T
NG_008985.2:g.30575A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000381733.9:c.1006A>T	ENSP00000371152.4:p.Asn336Tyr
ENST00000518746.2:n.2644A>T
ENST00000520781.6:c.883A>T	ENSP00000427751.1:p.Asn295Tyr
ENST00000635756.1:c.371A>T
ENST00000635944.1:c.*794A>T	ENSP00000490195.1:n.*794A>T
ENST00000635998.1:c.958A>T	ENSP00000490506.1:p.Asn320Tyr
ENST00000636009.1:c.815A>T	ENSP00000489988.1:n.815A>T
ENST00000636033.1:c.*794A>T	ENSP00000489617.1:n.*794A>T
ENST00000636050.1:c.*801A>T	ENSP00000490562.1:n.*801A>T
ENST00000636128.1:c.637A>T	ENSP00000489789.1:p.Asn213Tyr
ENST00000636160.1:c.*850A>T	ENSP00000489651.1:n.*850A>T
ENST00000636171.1:c.901A>T	ENSP00000489761.1:p.Asn301Tyr
ENST00000636455.1:c.965+148A>T	ENSP00000490502.1:n.965+148A>T
ENST00000636494.1:c.*738A>T	ENSP00000490388.1:n.*738A>T
ENST00000636563.1:n.620A>T
ENST00000636577.1:c.898A>T	ENSP00000490027.1:p.Asn300Tyr
ENST00000636691.1:c.763A>T	ENSP00000490725.1:p.Asn255Tyr
ENST00000636701.1:c.*609A>T	ENSP00000489800.1:n.*609A>T
ENST00000636815.1:c.875A>T
ENST00000636920.1:c.*794A>T	ENSP00000490437.1:n.*794A>T
ENST00000636997.1:c.871A>T	ENSP00000490093.1:p.Asn291Tyr
ENST00000637013.1:c.*1326A>T	ENSP00000490596.1:n.*1326A>T
ENST00000637014.1:n.1365A>T
ENST00000637095.1:c.*738A>T	ENSP00000490415.1:n.*738A>T
ENST00000637244.1:c.*1476A>T	ENSP00000490188.1:n.*1476A>T
ENST00000637343.1:n.2395A>T
ENST00000637429.1:c.*1170A>T	ENSP00000490522.1:n.*1170A>T
ENST00000637484.1:c.*920A>T	ENSP00000490837.1:n.*920A>T
ENST00000637528.1:c.895A>T	ENSP00000490801.1:p.Asn299Tyr
ENST00000637609.1:n.3679A>T
ENST00000637636.1:c.952A>T	ENSP00000490112.1:p.Asn318Tyr
ENST00000637790.2:c.958A>T MANE Select	ENSP00000490272.1:p.Asn320Tyr
ENST00000637857.1:n.1324A>T
ENST00000637922.1:c.763A>T	ENSP00000490071.1:p.Asn255Tyr
ENST00000637991.1:c.931A>T	ENSP00000489901.1:p.Asn311Tyr
ENST00000638028.1:n.1175A>T
ENST00000638069.1:n.1779A>T
ENST00000262097.10:c.958A>T	ENSP00000262097.6:p.Asn320Tyr
ENST00000314146.10:c.940A>T	ENSP00000326970.10:p.Asn314Tyr
ENST00000381733.8:c.1006A>T	ENSP00000371152.4:p.Asn336Tyr
ENST00000520781.5:c.883A>T	ENSP00000427751.1:p.Asn295Tyr
NM_001127505.1:c.940A>T	NP_001120977.1:p.Asn314Tyr
NM_001127505.2:c.940A>T	NP_001120977.1:p.Asn314Tyr
NM_004315.4:c.1006A>T	NP_004306.3:p.Asn336Tyr
NM_004315.5:c.1006A>T	NP_004306.3:p.Asn336Tyr
NM_177924.3:c.958A>T	NP_808592.2:p.Asn320Tyr
NM_177924.4:c.958A>T	NP_808592.2:p.Asn320Tyr
XM_005273504.2:c.892A>T	XP_005273561.1:p.Asn298Tyr
NM_001363743.1:c.763A>T	NP_001350672.1:p.Asn255Tyr
XM_005273504.3:c.892A>T	XP_005273561.1:p.Asn298Tyr
NM_177924.5:c.958A>T MANE Select	NP_808592.2:p.Asn320Tyr
NM_001127505.3:c.940A>T	NP_001120977.1:p.Asn314Tyr
NM_001363743.2:c.763A>T	NP_001350672.1:p.Asn255Tyr
NM_004315.6:c.1006A>T	NP_004306.3:p.Asn336Tyr