Canonical Allele Identifier: CA455680028

Gene: ASL

Linked Data

• ClinVar Variation Id: 1087175
• ClinVar RCV Id: RCV001405210
• dbSNP Id: rs2115741445
• gnomAD v4: 7-66089100-C-T
• MyVariant Identifiers: chr7:g.65554087C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089100C>T , CM000669.2:g.66089100C>T	GRCh38
NC_000007.13:g.65554087C>T , CM000669.1:g.65554087C>T	GRCh37
NC_000007.12:g.65191522C>T	NCBI36
NG_009288.1:g.18312C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.843C>T MANE Select	ENSP00000307188.9:p.Ser281=
ENST00000362000.10:c.648C>T	ENSP00000354710.6:p.Ser216=
ENST00000380839.9:c.765C>T	ENSP00000370219.4:p.Ser255=
ENST00000395331.4:c.843C>T	ENSP00000378740.3:p.Ser281=
ENST00000395332.8:c.843C>T	ENSP00000378741.3:p.Ser281=
ENST00000488343.2:c.12C>T	ENSP00000500864.1:p.Ser4=
ENST00000671817.1:c.765C>T	ENSP00000500462.1:p.Ser255=
ENST00000672498.1:c.*142C>T	ENSP00000500227.1:n.*142C>T
ENST00000672586.1:n.1602C>T
ENST00000672676.1:n.1867C>T
ENST00000673149.1:n.655C>T
ENST00000673350.1:n.2960C>T
ENST00000673518.1:c.765C>T	ENSP00000499889.1:p.Ser255=
ENST00000304874.13:c.843C>T	ENSP00000307188.9:p.Ser281=
ENST00000362000.9:c.648C>T	ENSP00000354710.5:p.Ser216=
ENST00000380839.8:c.765C>T	ENSP00000370219.4:p.Ser255=
ENST00000395331.3:c.843C>T	ENSP00000378740.3:p.Ser281=
ENST00000395332.7:c.843C>T	ENSP00000378741.3:p.Ser281=
ENST00000450043.2:c.156C>T	ENSP00000396527.2:p.Ser52=
ENST00000488343.1:n.12C>T
ENST00000493708.5:n.224C>T
NM_000048.3:c.843C>T	NP_000039.2:p.Ser281=
NM_001024943.1:c.843C>T	NP_001020114.1:p.Ser281=
NM_001024944.1:c.843C>T	NP_001020115.1:p.Ser281=
NM_001024946.1:c.765C>T	NP_001020117.1:p.Ser255=
NM_000048.4:c.843C>T MANE Select	NP_000039.2:p.Ser281=
NM_001024943.2:c.843C>T	NP_001020114.1:p.Ser281=
NM_001024944.2:c.843C>T	NP_001020115.1:p.Ser281=
NM_001024946.2:c.765C>T	NP_001020117.1:p.Ser255=