Canonical Allele Identifier: CA367638721

Gene: ASL

Linked Data

• dbSNP Id: rs1584021872
• gnomAD v4: 7-66082371-G-T
• MyVariant Identifiers: chr7:g.65547358G>T (hg19) ; chr7:g.66082371G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66082371G>T , CM000669.2:g.66082371G>T	GRCh38
NC_000007.13:g.65547358G>T , CM000669.1:g.65547358G>T	GRCh37
NC_000007.12:g.65184793G>T	NCBI36
NG_009288.1:g.11583G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.211G>T MANE Select	ENSP00000307188.9:p.Ala71Ser
ENST00000362000.10:c.16G>T	ENSP00000354710.6:p.Ala6Ser
ENST00000380839.9:c.211G>T	ENSP00000370219.4:p.Ala71Ser
ENST00000395331.4:c.211G>T	ENSP00000378740.3:p.Ala71Ser
ENST00000395332.8:c.211G>T	ENSP00000378741.3:p.Ala71Ser
ENST00000671817.1:c.211G>T	ENSP00000500462.1:p.Ala71Ser
ENST00000672498.1:c.211G>T	ENSP00000500227.1:p.Ala71Ser
ENST00000672586.1:n.116G>T
ENST00000672676.1:n.381G>T
ENST00000673350.1:n.459G>T
ENST00000673518.1:c.211G>T	ENSP00000499889.1:p.Ala71Ser
ENST00000673594.1:n.60G>T
ENST00000304874.13:c.211G>T	ENSP00000307188.9:p.Ala71Ser
ENST00000362000.9:c.16G>T	ENSP00000354710.5:p.Ala6Ser
ENST00000380839.8:c.211G>T	ENSP00000370219.4:p.Ala71Ser
ENST00000395331.3:c.211G>T	ENSP00000378740.3:p.Ala71Ser
ENST00000395332.7:c.211G>T	ENSP00000378741.3:p.Ala71Ser
ENST00000487982.5:n.277G>T
ENST00000496336.1:n.452G>T
NM_000048.3:c.211G>T	NP_000039.2:p.Ala71Ser
NM_001024943.1:c.211G>T	NP_001020114.1:p.Ala71Ser
NM_001024944.1:c.211G>T	NP_001020115.1:p.Ala71Ser
NM_001024946.1:c.211G>T	NP_001020117.1:p.Ala71Ser
NM_000048.4:c.211G>T MANE Select	NP_000039.2:p.Ala71Ser
NM_001024943.2:c.211G>T	NP_001020114.1:p.Ala71Ser
NM_001024944.2:c.211G>T	NP_001020115.1:p.Ala71Ser
NM_001024946.2:c.211G>T	NP_001020117.1:p.Ala71Ser