Canonical Allele Identifier: CA4277397

Gene: ASL

Linked Data

• dbSNP Id: rs769450817
• ExAC: 7:65557851 C / T
• gnomAD v2: 7-65557851-C-T
• gnomAD v4: 7-66092864-C-T
• MyVariant Identifiers: chr7:g.65557851C>T (hg19) ; chr7:g.66092864C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092864C>T , CM000669.2:g.66092864C>T	GRCh38
NC_000007.13:g.65557851C>T , CM000669.1:g.65557851C>T	GRCh37
NC_000007.12:g.65195286C>T	NCBI36
NG_009288.1:g.22076C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000304874.14:c.1347C>T MANE Select	ENSP00000307188.9:p.Asp449=
ENST00000362000.10:c.1152C>T	ENSP00000354710.6:p.Asp384=
ENST00000380839.9:c.1269C>T	ENSP00000370219.4:p.Asp423=
ENST00000395331.4:c.1287C>T	ENSP00000378740.3:p.Asp429=
ENST00000395332.8:c.1347C>T	ENSP00000378741.3:p.Asp449=
ENST00000488343.2:c.148-40C>T	ENSP00000500864.1:n.148-40C>T
ENST00000672498.1:c.*750C>T	ENSP00000500227.1:n.*750C>T
ENST00000672586.1:n.2106C>T
ENST00000672676.1:n.2371C>T
ENST00000673149.1:n.1159C>T
ENST00000673350.1:n.3464C>T
ENST00000673518.1:c.1269C>T	ENSP00000499889.1:p.Asp423=
ENST00000304874.13:c.1347C>T	ENSP00000307188.9:p.Asp449=
ENST00000380839.8:c.1269C>T	ENSP00000370219.4:p.Asp423=
ENST00000395331.3:c.1287C>T	ENSP00000378740.3:p.Asp429=
ENST00000395332.7:c.1347C>T	ENSP00000378741.3:p.Asp449=
ENST00000450043.2:c.563+201C>T	ENSP00000396527.2:n.563+201C>T
ENST00000464970.1:n.550C>T
ENST00000488343.1:n.148-40C>T
ENST00000493708.5:n.828C>T
NM_000048.3:c.1347C>T	NP_000039.2:p.Asp449=
NM_001024943.1:c.1347C>T	NP_001020114.1:p.Asp449=
NM_001024944.1:c.1287C>T	NP_001020115.1:p.Asp429=
NM_001024946.1:c.1269C>T	NP_001020117.1:p.Asp423=
NM_000048.4:c.1347C>T MANE Select	NP_000039.2:p.Asp449=
NM_001024943.2:c.1347C>T	NP_001020114.1:p.Asp449=
NM_001024944.2:c.1287C>T	NP_001020115.1:p.Asp429=
NM_001024946.2:c.1269C>T	NP_001020117.1:p.Asp423=