Canonical Allele Identifier: CA159934167

Gene: ASL

Linked Data

• dbSNP Id: rs375562374
• MyVariant Identifiers: chr7:g.65554151G>C (hg19) ; chr7:g.66089164G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089164G>C , CM000669.2:g.66089164G>C	GRCh38
NC_000007.13:g.65554151G>C , CM000669.1:g.65554151G>C	GRCh37
NC_000007.12:g.65191586G>C	NCBI36
NG_009288.1:g.18376G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.907G>C MANE Select	ENSP00000307188.9:p.Val303Leu
ENST00000362000.10:c.712G>C	ENSP00000354710.6:p.Val238Leu
ENST00000380839.9:c.829G>C	ENSP00000370219.4:p.Val277Leu
ENST00000395331.4:c.907G>C	ENSP00000378740.3:p.Val303Leu
ENST00000395332.8:c.907G>C	ENSP00000378741.3:p.Val303Leu
ENST00000488343.2:c.76G>C	ENSP00000500864.1:p.Val26Leu
ENST00000671817.1:c.829G>C	ENSP00000500462.1:p.Val277Leu
ENST00000672498.1:c.*206G>C	ENSP00000500227.1:n.*206G>C
ENST00000672586.1:n.1666G>C
ENST00000672676.1:n.1931G>C
ENST00000673149.1:n.719G>C
ENST00000673350.1:n.3024G>C
ENST00000673518.1:c.829G>C	ENSP00000499889.1:p.Val277Leu
ENST00000304874.13:c.907G>C	ENSP00000307188.9:p.Val303Leu
ENST00000362000.9:c.712G>C	ENSP00000354710.5:p.Val238Leu
ENST00000380839.8:c.829G>C	ENSP00000370219.4:p.Val277Leu
ENST00000395331.3:c.907G>C	ENSP00000378740.3:p.Val303Leu
ENST00000395332.7:c.907G>C	ENSP00000378741.3:p.Val303Leu
ENST00000450043.2:c.220G>C	ENSP00000396527.2:p.Val74Leu
ENST00000488343.1:n.76G>C
ENST00000493708.5:n.288G>C
NM_000048.3:c.907G>C	NP_000039.2:p.Val303Leu
NM_001024943.1:c.907G>C	NP_001020114.1:p.Val303Leu
NM_001024944.1:c.907G>C	NP_001020115.1:p.Val303Leu
NM_001024946.1:c.829G>C	NP_001020117.1:p.Val277Leu
NM_000048.4:c.907G>C MANE Select	NP_000039.2:p.Val303Leu
NM_001024943.2:c.907G>C	NP_001020114.1:p.Val303Leu
NM_001024944.2:c.907G>C	NP_001020115.1:p.Val303Leu
NM_001024946.2:c.829G>C	NP_001020117.1:p.Val277Leu