Canonical Allele Identifier: CA159927403

Gene: ASL

Linked Data

• dbSNP Id: rs542276512
• gnomAD v2: 7-65548244-G-C
• gnomAD v3: 7-66083257-G-C
• gnomAD v4: 7-66083257-G-C
• MyVariant Identifiers: chr7:g.65548244G>C (hg19) ; chr7:g.66083257G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66083257G>C , CM000669.2:g.66083257G>C	GRCh38
NC_000007.13:g.65548244G>C , CM000669.1:g.65548244G>C	GRCh37
NC_000007.12:g.65185679G>C	NCBI36
NG_009288.1:g.12469G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.446+83G>C MANE Select	ENSP00000307188.9:n.446+83G>C
ENST00000362000.10:c.251+83G>C	ENSP00000354710.6:n.251+83G>C
ENST00000380839.9:c.446+83G>C	ENSP00000370219.4:n.446+83G>C
ENST00000395331.4:c.446+83G>C	ENSP00000378740.3:n.446+83G>C
ENST00000395332.8:c.446+83G>C	ENSP00000378741.3:n.446+83G>C
ENST00000671817.1:c.446+83G>C	ENSP00000500462.1:n.446+83G>C
ENST00000672498.1:c.446+83G>C	ENSP00000500227.1:n.446+83G>C
ENST00000672586.1:n.351+83G>C
ENST00000672676.1:n.616+83G>C
ENST00000673149.1:n.258+83G>C
ENST00000673350.1:n.694+83G>C
ENST00000673518.1:c.446+83G>C	ENSP00000499889.1:n.446+83G>C
ENST00000673594.1:n.295+83G>C
ENST00000304874.13:c.446+83G>C	ENSP00000307188.9:n.446+83G>C
ENST00000362000.9:c.251+83G>C	ENSP00000354710.5:n.251+83G>C
ENST00000380839.8:c.446+83G>C	ENSP00000370219.4:n.446+83G>C
ENST00000395331.3:c.446+83G>C	ENSP00000378740.3:n.446+83G>C
ENST00000395332.7:c.446+83G>C	ENSP00000378741.3:n.446+83G>C
ENST00000487982.5:n.512+83G>C
ENST00000496336.1:n.910G>C
NM_000048.3:c.446+83G>C	NP_000039.2:n.446+83G>C
NM_001024943.1:c.446+83G>C	NP_001020114.1:n.446+83G>C
NM_001024944.1:c.446+83G>C	NP_001020115.1:n.446+83G>C
NM_001024946.1:c.446+83G>C	NP_001020117.1:n.446+83G>C
NM_000048.4:c.446+83G>C MANE Select	NP_000039.2:n.446+83G>C
NM_001024943.2:c.446+83G>C	NP_001020114.1:n.446+83G>C
NM_001024944.2:c.446+83G>C	NP_001020115.1:n.446+83G>C
NM_001024946.2:c.446+83G>C	NP_001020117.1:n.446+83G>C