Canonical Allele Identifier: CA574859619

Gene: ASL

Linked Data

• dbSNP Id: rs1428723194
• gnomAD v2: 7-65557694-C-A
• gnomAD v4: 7-66092707-C-A
• MyVariant Identifiers: chr7:g.65557694C>A (hg19) ; chr7:g.66092707C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092707C>A , CM000669.2:g.66092707C>A	GRCh38
NC_000007.13:g.65557694C>A , CM000669.1:g.65557694C>A	GRCh37
NC_000007.12:g.65195129C>A	NCBI36
NG_009288.1:g.21919C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.1250+44C>A MANE Select	ENSP00000307188.9:n.1250+44C>A
ENST00000362000.10:c.1055+44C>A	ENSP00000354710.6:n.1055+44C>A
ENST00000380839.9:c.1172+44C>A	ENSP00000370219.4:n.1172+44C>A
ENST00000395331.4:c.1190+44C>A	ENSP00000378740.3:n.1190+44C>A
ENST00000395332.8:c.1250+44C>A	ENSP00000378741.3:n.1250+44C>A
ENST00000488343.2:c.148-197C>A	ENSP00000500864.1:n.148-197C>A
ENST00000672498.1:c.*593C>A	ENSP00000500227.1:n.*593C>A
ENST00000672586.1:n.2009+44C>A
ENST00000672676.1:n.2274+44C>A
ENST00000673149.1:n.1062+44C>A
ENST00000673350.1:n.3367+44C>A
ENST00000673518.1:c.1172+44C>A	ENSP00000499889.1:n.1172+44C>A
ENST00000304874.13:c.1250+44C>A	ENSP00000307188.9:n.1250+44C>A
ENST00000380839.8:c.1172+44C>A	ENSP00000370219.4:n.1172+44C>A
ENST00000395331.3:c.1190+44C>A	ENSP00000378740.3:n.1190+44C>A
ENST00000395332.7:c.1250+44C>A	ENSP00000378741.3:n.1250+44C>A
ENST00000450043.2:c.563+44C>A	ENSP00000396527.2:n.563+44C>A
ENST00000464970.1:n.453+44C>A
ENST00000488343.1:n.148-197C>A
ENST00000493708.5:n.731+44C>A
NM_000048.3:c.1250+44C>A	NP_000039.2:n.1250+44C>A
NM_001024943.1:c.1250+44C>A	NP_001020114.1:n.1250+44C>A
NM_001024944.1:c.1190+44C>A	NP_001020115.1:n.1190+44C>A
NM_001024946.1:c.1172+44C>A	NP_001020117.1:n.1172+44C>A
NM_000048.4:c.1250+44C>A MANE Select	NP_000039.2:n.1250+44C>A
NM_001024943.2:c.1250+44C>A	NP_001020114.1:n.1250+44C>A
NM_001024944.2:c.1190+44C>A	NP_001020115.1:n.1190+44C>A
NM_001024946.2:c.1172+44C>A	NP_001020117.1:n.1172+44C>A