Canonical Allele Identifier: CA159942164

Gene: ASL

Linked Data

• dbSNP Id: rs547442474
• gnomAD v2: 7-65557398-G-A
• gnomAD v3: 7-66092411-G-A
• gnomAD v4: 7-66092411-G-A
• MyVariant Identifiers: chr7:g.65557398G>A (hg19) ; chr7:g.66092411G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092411G>A , CM000669.2:g.66092411G>A	GRCh38
NC_000007.13:g.65557398G>A , CM000669.1:g.65557398G>A	GRCh37
NC_000007.12:g.65194833G>A	NCBI36
NG_009288.1:g.21623G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.1144-146G>A MANE Select	ENSP00000307188.9:n.1144-146G>A
ENST00000362000.10:c.949-146G>A	ENSP00000354710.6:n.949-146G>A
ENST00000380839.9:c.1066-146G>A	ENSP00000370219.4:n.1066-146G>A
ENST00000395331.4:c.1084-146G>A	ENSP00000378740.3:n.1084-146G>A
ENST00000395332.8:c.1144-146G>A	ENSP00000378741.3:n.1144-146G>A
ENST00000488343.2:c.148-493G>A	ENSP00000500864.1:n.148-493G>A
ENST00000672498.1:c.*443-146G>A	ENSP00000500227.1:n.*443-146G>A
ENST00000672586.1:n.1903-146G>A
ENST00000672676.1:n.2168-146G>A
ENST00000673149.1:n.956-146G>A
ENST00000673350.1:n.3261-146G>A
ENST00000673518.1:c.1066-146G>A	ENSP00000499889.1:n.1066-146G>A
ENST00000304874.13:c.1144-146G>A	ENSP00000307188.9:n.1144-146G>A
ENST00000380839.8:c.1066-146G>A	ENSP00000370219.4:n.1066-146G>A
ENST00000395331.3:c.1084-146G>A	ENSP00000378740.3:n.1084-146G>A
ENST00000395332.7:c.1144-146G>A	ENSP00000378741.3:n.1144-146G>A
ENST00000450043.2:c.457-146G>A	ENSP00000396527.2:n.457-146G>A
ENST00000464970.1:n.347-146G>A
ENST00000488343.1:n.148-493G>A
ENST00000493708.5:n.625-146G>A
NM_000048.3:c.1144-146G>A	NP_000039.2:n.1144-146G>A
NM_001024943.1:c.1144-146G>A	NP_001020114.1:n.1144-146G>A
NM_001024944.1:c.1084-146G>A	NP_001020115.1:n.1084-146G>A
NM_001024946.1:c.1066-146G>A	NP_001020117.1:n.1066-146G>A
NM_000048.4:c.1144-146G>A MANE Select	NP_000039.2:n.1144-146G>A
NM_001024943.2:c.1144-146G>A	NP_001020114.1:n.1144-146G>A
NM_001024944.2:c.1084-146G>A	NP_001020115.1:n.1084-146G>A
NM_001024946.2:c.1066-146G>A	NP_001020117.1:n.1066-146G>A