Canonical Allele Identifier: CA4277169

Gene: ASL

Linked Data

• dbSNP Id: rs751249678
• ExAC: 7:65554156 T / C
• gnomAD v2: 7-65554156-T-C
• MyVariant Identifiers: chr7:g.65554156T>C (hg19) ; chr7:g.66089169T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089169T>C , CM000669.2:g.66089169T>C	GRCh38
NC_000007.13:g.65554156T>C , CM000669.1:g.65554156T>C	GRCh37
NC_000007.12:g.65191591T>C	NCBI36
NG_009288.1:g.18381T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.912T>C MANE Select	ENSP00000307188.9:p.Phe304=
ENST00000362000.10:c.717T>C	ENSP00000354710.6:p.Phe239=
ENST00000380839.9:c.834T>C	ENSP00000370219.4:p.Phe278=
ENST00000395331.4:c.912T>C	ENSP00000378740.3:p.Phe304=
ENST00000395332.8:c.912T>C	ENSP00000378741.3:p.Phe304=
ENST00000488343.2:c.81T>C	ENSP00000500864.1:p.Phe27=
ENST00000671817.1:c.834T>C	ENSP00000500462.1:p.Phe278=
ENST00000672498.1:c.*211T>C	ENSP00000500227.1:n.*211T>C
ENST00000672586.1:n.1671T>C
ENST00000672676.1:n.1936T>C
ENST00000673149.1:n.724T>C
ENST00000673350.1:n.3029T>C
ENST00000673518.1:c.834T>C	ENSP00000499889.1:p.Phe278=
ENST00000304874.13:c.912T>C	ENSP00000307188.9:p.Phe304=
ENST00000362000.9:c.717T>C	ENSP00000354710.5:p.Phe239=
ENST00000380839.8:c.834T>C	ENSP00000370219.4:p.Phe278=
ENST00000395331.3:c.912T>C	ENSP00000378740.3:p.Phe304=
ENST00000395332.7:c.912T>C	ENSP00000378741.3:p.Phe304=
ENST00000450043.2:c.225T>C	ENSP00000396527.2:p.Phe75=
ENST00000488343.1:n.81T>C
ENST00000493708.5:n.293T>C
NM_000048.3:c.912T>C	NP_000039.2:p.Phe304=
NM_001024943.1:c.912T>C	NP_001020114.1:p.Phe304=
NM_001024944.1:c.912T>C	NP_001020115.1:p.Phe304=
NM_001024946.1:c.834T>C	NP_001020117.1:p.Phe278=
NM_000048.4:c.912T>C MANE Select	NP_000039.2:p.Phe304=
NM_001024943.2:c.912T>C	NP_001020114.1:p.Phe304=
NM_001024944.2:c.912T>C	NP_001020115.1:p.Phe304=
NM_001024946.2:c.834T>C	NP_001020117.1:p.Phe278=