Canonical Allele Identifier: CA4277202

Gene: ASL

Linked Data

• dbSNP Id: rs775871020
• ExAC: 7:65554267 C / T
• gnomAD v2: 7-65554267-C-T
• gnomAD v3: 7-66089280-C-T
• gnomAD v4: 7-66089280-C-T
• MyVariant Identifiers: chr7:g.65554267C>T (hg19) ; chr7:g.66089280C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089280C>T , CM000669.2:g.66089280C>T	GRCh38
NC_000007.13:g.65554267C>T , CM000669.1:g.65554267C>T	GRCh37
NC_000007.12:g.65191702C>T	NCBI36
NG_009288.1:g.18492C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.923C>T MANE Select	ENSP00000307188.9:p.Ala308Val
ENST00000362000.10:c.728C>T	ENSP00000354710.6:p.Ala243Val
ENST00000380839.9:c.845C>T	ENSP00000370219.4:p.Ala282Val
ENST00000395331.4:c.918+105C>T	ENSP00000378740.3:n.918+105C>T
ENST00000395332.8:c.923C>T	ENSP00000378741.3:p.Ala308Val
ENST00000488343.2:c.92C>T	ENSP00000500864.1:p.Ala31Val
ENST00000671817.1:c.845C>T	ENSP00000500462.1:p.Ala282Val
ENST00000672498.1:c.*222C>T	ENSP00000500227.1:n.*222C>T
ENST00000672586.1:n.1682C>T
ENST00000672676.1:n.1947C>T
ENST00000673149.1:n.735C>T
ENST00000673350.1:n.3040C>T
ENST00000673518.1:c.845C>T	ENSP00000499889.1:p.Ala282Val
ENST00000304874.13:c.923C>T	ENSP00000307188.9:p.Ala308Val
ENST00000380839.8:c.845C>T	ENSP00000370219.4:p.Ala282Val
ENST00000395331.3:c.918+105C>T	ENSP00000378740.3:n.918+105C>T
ENST00000395332.7:c.923C>T	ENSP00000378741.3:p.Ala308Val
ENST00000450043.2:c.236C>T	ENSP00000396527.2:p.Ala79Val
ENST00000464970.1:n.42C>T
ENST00000488343.1:n.92C>T
ENST00000493708.5:n.404C>T
NM_000048.3:c.923C>T	NP_000039.2:p.Ala308Val
NM_001024943.1:c.923C>T	NP_001020114.1:p.Ala308Val
NM_001024944.1:c.918+105C>T	NP_001020115.1:n.918+105C>T
NM_001024946.1:c.845C>T	NP_001020117.1:p.Ala282Val
NM_000048.4:c.923C>T MANE Select	NP_000039.2:p.Ala308Val
NM_001024943.2:c.923C>T	NP_001020114.1:p.Ala308Val
NM_001024944.2:c.918+105C>T	NP_001020115.1:n.918+105C>T
NM_001024946.2:c.845C>T	NP_001020117.1:p.Ala282Val