Canonical Allele Identifier: CA239719

Gene: ASL

Linked Data

• ClinVar Variation Id: 193967
• ClinVar RCV Id: RCV000174210 ; RCV001432385
• dbSNP Id: rs543255240
• ExAC: 7:65554081 G / C
• gnomAD v2: 7-65554081-G-C
• gnomAD v3: 7-66089094-G-C
• gnomAD v4: 7-66089094-G-C
• MyVariant Identifiers: chr7:g.65554081G>C (hg19) ; chr7:g.66089094G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089094G>C , CM000669.2:g.66089094G>C	GRCh38
NC_000007.13:g.65554081G>C , CM000669.1:g.65554081G>C	GRCh37
NC_000007.12:g.65191516G>C	NCBI36
NG_009288.1:g.18306G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.837G>C MANE Select	ENSP00000307188.9:p.Thr279=
ENST00000362000.10:c.642G>C	ENSP00000354710.6:p.Thr214=
ENST00000380839.9:c.759G>C	ENSP00000370219.4:p.Thr253=
ENST00000395331.4:c.837G>C	ENSP00000378740.3:p.Thr279=
ENST00000395332.8:c.837G>C	ENSP00000378741.3:p.Thr279=
ENST00000488343.2:c.6G>C	ENSP00000500864.1:p.Thr2=
ENST00000671817.1:c.759G>C	ENSP00000500462.1:p.Thr253=
ENST00000672498.1:c.*136G>C	ENSP00000500227.1:n.*136G>C
ENST00000672586.1:n.1596G>C
ENST00000672676.1:n.1861G>C
ENST00000673149.1:n.649G>C
ENST00000673350.1:n.2954G>C
ENST00000673518.1:c.759G>C	ENSP00000499889.1:p.Thr253=
ENST00000304874.13:c.837G>C	ENSP00000307188.9:p.Thr279=
ENST00000362000.9:c.642G>C	ENSP00000354710.5:p.Thr214=
ENST00000380839.8:c.759G>C	ENSP00000370219.4:p.Thr253=
ENST00000395331.3:c.837G>C	ENSP00000378740.3:p.Thr279=
ENST00000395332.7:c.837G>C	ENSP00000378741.3:p.Thr279=
ENST00000450043.2:c.150G>C	ENSP00000396527.2:p.Thr50=
ENST00000488343.1:n.6G>C
ENST00000493708.5:n.218G>C
NM_000048.3:c.837G>C	NP_000039.2:p.Thr279=
NM_001024943.1:c.837G>C	NP_001020114.1:p.Thr279=
NM_001024944.1:c.837G>C	NP_001020115.1:p.Thr279=
NM_001024946.1:c.759G>C	NP_001020117.1:p.Thr253=
NM_000048.4:c.837G>C MANE Select	NP_000039.2:p.Thr279=
NM_001024943.2:c.837G>C	NP_001020114.1:p.Thr279=
NM_001024944.2:c.837G>C	NP_001020115.1:p.Thr279=
NM_001024946.2:c.759G>C	NP_001020117.1:p.Thr253=