Canonical Allele Identifier: CA367645753

Gene: ASL

Linked Data

• dbSNP Id: rs1786763547
• gnomAD v4: 7-66089155-G-T
• MyVariant Identifiers: chr7:g.65554142G>T (hg19) ; chr7:g.66089155G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089155G>T , CM000669.2:g.66089155G>T	GRCh38
NC_000007.13:g.65554142G>T , CM000669.1:g.65554142G>T	GRCh37
NC_000007.12:g.65191577G>T	NCBI36
NG_009288.1:g.18367G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000304874.14:c.898G>T MANE Select	ENSP00000307188.9:p.Ala300Ser
ENST00000362000.10:c.703G>T	ENSP00000354710.6:p.Ala235Ser
ENST00000380839.9:c.820G>T	ENSP00000370219.4:p.Ala274Ser
ENST00000395331.4:c.898G>T	ENSP00000378740.3:p.Ala300Ser
ENST00000395332.8:c.898G>T	ENSP00000378741.3:p.Ala300Ser
ENST00000488343.2:c.67G>T	ENSP00000500864.1:p.Ala23Ser
ENST00000671817.1:c.820G>T	ENSP00000500462.1:p.Ala274Ser
ENST00000672498.1:c.*197G>T	ENSP00000500227.1:n.*197G>T
ENST00000672586.1:n.1657G>T
ENST00000672676.1:n.1922G>T
ENST00000673149.1:n.710G>T
ENST00000673350.1:n.3015G>T
ENST00000673518.1:c.820G>T	ENSP00000499889.1:p.Ala274Ser
ENST00000304874.13:c.898G>T	ENSP00000307188.9:p.Ala300Ser
ENST00000362000.9:c.703G>T	ENSP00000354710.5:p.Ala235Ser
ENST00000380839.8:c.820G>T	ENSP00000370219.4:p.Ala274Ser
ENST00000395331.3:c.898G>T	ENSP00000378740.3:p.Ala300Ser
ENST00000395332.7:c.898G>T	ENSP00000378741.3:p.Ala300Ser
ENST00000450043.2:c.211G>T	ENSP00000396527.2:p.Ala71Ser
ENST00000488343.1:n.67G>T
ENST00000493708.5:n.279G>T
NM_000048.3:c.898G>T	NP_000039.2:p.Ala300Ser
NM_001024943.1:c.898G>T	NP_001020114.1:p.Ala300Ser
NM_001024944.1:c.898G>T	NP_001020115.1:p.Ala300Ser
NM_001024946.1:c.820G>T	NP_001020117.1:p.Ala274Ser
NM_000048.4:c.898G>T MANE Select	NP_000039.2:p.Ala300Ser
NM_001024943.2:c.898G>T	NP_001020114.1:p.Ala300Ser
NM_001024944.2:c.898G>T	NP_001020115.1:p.Ala300Ser
NM_001024946.2:c.820G>T	NP_001020117.1:p.Ala274Ser