Canonical Allele Identifier: CA4277365

Gene: ASL

Linked Data

• dbSNP Id: rs751753215
• ExAC: 7:65557740 T / C
• gnomAD v2: 7-65557740-T-C
• gnomAD v4: 7-66092753-T-C
• MyVariant Identifiers: chr7:g.65557740T>C (hg19) ; chr7:g.66092753T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092753T>C , CM000669.2:g.66092753T>C	GRCh38
NC_000007.13:g.65557740T>C , CM000669.1:g.65557740T>C	GRCh37
NC_000007.12:g.65195175T>C	NCBI36
NG_009288.1:g.21965T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000304874.14:c.1251-15T>C MANE Select	ENSP00000307188.9:n.1251-15T>C
ENST00000362000.10:c.1056-15T>C	ENSP00000354710.6:n.1056-15T>C
ENST00000380839.9:c.1173-15T>C	ENSP00000370219.4:n.1173-15T>C
ENST00000395331.4:c.1191-15T>C	ENSP00000378740.3:n.1191-15T>C
ENST00000395332.8:c.1251-15T>C	ENSP00000378741.3:n.1251-15T>C
ENST00000488343.2:c.148-151T>C	ENSP00000500864.1:n.148-151T>C
ENST00000672498.1:c.*639T>C	ENSP00000500227.1:n.*639T>C
ENST00000672586.1:n.2010-15T>C
ENST00000672676.1:n.2275-15T>C
ENST00000673149.1:n.1063-15T>C
ENST00000673350.1:n.3368-15T>C
ENST00000673518.1:c.1173-15T>C	ENSP00000499889.1:n.1173-15T>C
ENST00000304874.13:c.1251-15T>C	ENSP00000307188.9:n.1251-15T>C
ENST00000380839.8:c.1173-15T>C	ENSP00000370219.4:n.1173-15T>C
ENST00000395331.3:c.1191-15T>C	ENSP00000378740.3:n.1191-15T>C
ENST00000395332.7:c.1251-15T>C	ENSP00000378741.3:n.1251-15T>C
ENST00000450043.2:c.563+90T>C	ENSP00000396527.2:n.563+90T>C
ENST00000464970.1:n.454-15T>C
ENST00000488343.1:n.148-151T>C
ENST00000493708.5:n.732-15T>C
NM_000048.3:c.1251-15T>C	NP_000039.2:n.1251-15T>C
NM_001024943.1:c.1251-15T>C	NP_001020114.1:n.1251-15T>C
NM_001024944.1:c.1191-15T>C	NP_001020115.1:n.1191-15T>C
NM_001024946.1:c.1173-15T>C	NP_001020117.1:n.1173-15T>C
NM_000048.4:c.1251-15T>C MANE Select	NP_000039.2:n.1251-15T>C
NM_001024943.2:c.1251-15T>C	NP_001020114.1:n.1251-15T>C
NM_001024944.2:c.1191-15T>C	NP_001020115.1:n.1191-15T>C
NM_001024946.2:c.1173-15T>C	NP_001020117.1:n.1173-15T>C