Canonical Allele Identifier: CA4277053

Gene: ASL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66087342T>C , CM000669.2:g.66087342T>C	GRCh38
NC_000007.13:g.65552329T>C , CM000669.1:g.65552329T>C	GRCh37
NC_000007.12:g.65189764T>C	NCBI36
NG_009288.1:g.16554T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000048.4:c.611T>C MANE Select	NP_000039.2:p.Ile204Thr
ENST00000304874.14:c.611T>C MANE Select	ENSP00000307188.9:p.Ile204Thr
NM_000048.3:c.611T>C	NP_000039.2:p.Ile204Thr
NM_001024943.1:c.611T>C	NP_001020114.1:p.Ile204Thr
NM_001024943.2:c.611T>C	NP_001020114.1:p.Ile204Thr
NM_001024944.1:c.611T>C	NP_001020115.1:p.Ile204Thr
NM_001024944.2:c.611T>C	NP_001020115.1:p.Ile204Thr
NM_001024946.1:c.533T>C	NP_001020117.1:p.Ile178Thr
NM_001024946.2:c.533T>C	NP_001020117.1:p.Ile178Thr
ENST00000304874.13:c.611T>C	ENSP00000307188.9:p.Ile204Thr
ENST00000362000.10:c.416T>C	ENSP00000354710.6:p.Ile139Thr
ENST00000362000.9:c.416T>C	ENSP00000354710.5:p.Ile139Thr
ENST00000380839.8:c.533T>C	ENSP00000370219.4:p.Ile178Thr
ENST00000380839.9:c.533T>C	ENSP00000370219.4:p.Ile178Thr
ENST00000395331.3:c.611T>C	ENSP00000378740.3:p.Ile204Thr
ENST00000395331.4:c.611T>C	ENSP00000378740.3:p.Ile204Thr
ENST00000395332.7:c.611T>C	ENSP00000378741.3:p.Ile204Thr
ENST00000395332.8:c.611T>C	ENSP00000378741.3:p.Ile204Thr
ENST00000671817.1:c.533T>C	ENSP00000500462.1:p.Ile178Thr
ENST00000672498.1:c.447-387T>C	ENSP00000500227.1:n.447-387T>C
ENST00000672586.1:n.1028T>C
ENST00000672676.1:n.1293T>C
ENST00000673149.1:n.423T>C
ENST00000673350.1:n.1371T>C
ENST00000673518.1:c.533T>C	ENSP00000499889.1:p.Ile178Thr
ENST00000673594.1:n.460T>C