Canonical Allele Identifier: CA367645919

Gene: ASL

Linked Data

• MyVariant Identifiers: chr7:g.65554164T>C (hg19) ; chr7:g.66089177T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089177T>C , CM000669.2:g.66089177T>C	GRCh38
NC_000007.13:g.65554164T>C , CM000669.1:g.65554164T>C	GRCh37
NC_000007.12:g.65191599T>C	NCBI36
NG_009288.1:g.18389T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.918+2T>C MANE Select	ENSP00000307188.9:n.918+2T>C
ENST00000362000.10:c.723+2T>C	ENSP00000354710.6:n.723+2T>C
ENST00000380839.9:c.840+2T>C	ENSP00000370219.4:n.840+2T>C
ENST00000395331.4:c.918+2T>C	ENSP00000378740.3:n.918+2T>C
ENST00000395332.8:c.918+2T>C	ENSP00000378741.3:n.918+2T>C
ENST00000488343.2:c.87+2T>C	ENSP00000500864.1:n.87+2T>C
ENST00000671817.1:c.840+2T>C	ENSP00000500462.1:n.840+2T>C
ENST00000672498.1:c.*217+2T>C	ENSP00000500227.1:n.*217+2T>C
ENST00000672586.1:n.1677+2T>C
ENST00000672676.1:n.1942+2T>C
ENST00000673149.1:n.730+2T>C
ENST00000673350.1:n.3035+2T>C
ENST00000673518.1:c.840+2T>C	ENSP00000499889.1:n.840+2T>C
ENST00000304874.13:c.918+2T>C	ENSP00000307188.9:n.918+2T>C
ENST00000362000.9:c.725T>C	ENSP00000354710.5:p.Val242Ala
ENST00000380839.8:c.840+2T>C	ENSP00000370219.4:n.840+2T>C
ENST00000395331.3:c.918+2T>C	ENSP00000378740.3:n.918+2T>C
ENST00000395332.7:c.918+2T>C	ENSP00000378741.3:n.918+2T>C
ENST00000450043.2:c.231+2T>C	ENSP00000396527.2:n.231+2T>C
ENST00000488343.1:n.87+2T>C
ENST00000493708.5:n.301T>C
NM_000048.3:c.918+2T>C	NP_000039.2:n.918+2T>C
NM_001024943.1:c.918+2T>C	NP_001020114.1:n.918+2T>C
NM_001024944.1:c.918+2T>C	NP_001020115.1:n.918+2T>C
NM_001024946.1:c.840+2T>C	NP_001020117.1:n.840+2T>C
NM_000048.4:c.918+2T>C MANE Select	NP_000039.2:n.918+2T>C
NM_001024943.2:c.918+2T>C	NP_001020114.1:n.918+2T>C
NM_001024944.2:c.918+2T>C	NP_001020115.1:n.918+2T>C
NM_001024946.2:c.840+2T>C	NP_001020117.1:n.840+2T>C