Canonical Allele Identifier: CA367642449

Gene: ASL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66086758T>C , CM000669.2:g.66086758T>C	GRCh38
NC_000007.13:g.65551745T>C , CM000669.1:g.65551745T>C	GRCh37
NC_000007.12:g.65189180T>C	NCBI36
NG_009288.1:g.15970T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000048.4:c.539T>C MANE Select	NP_000039.2:p.Leu180Pro
ENST00000304874.14:c.539T>C MANE Select	ENSP00000307188.9:p.Leu180Pro
NM_000048.3:c.539T>C	NP_000039.2:p.Leu180Pro
NM_001024943.1:c.539T>C	NP_001020114.1:p.Leu180Pro
NM_001024943.2:c.539T>C	NP_001020114.1:p.Leu180Pro
NM_001024944.1:c.539T>C	NP_001020115.1:p.Leu180Pro
NM_001024944.2:c.539T>C	NP_001020115.1:p.Leu180Pro
NM_001024946.1:c.524+96T>C	NP_001020117.1:n.524+96T>C
NM_001024946.2:c.524+96T>C	NP_001020117.1:n.524+96T>C
ENST00000304874.13:c.539T>C	ENSP00000307188.9:p.Leu180Pro
ENST00000362000.10:c.344T>C	ENSP00000354710.6:p.Leu115Pro
ENST00000362000.9:c.344T>C	ENSP00000354710.5:p.Leu115Pro
ENST00000380839.8:c.524+96T>C	ENSP00000370219.4:n.524+96T>C
ENST00000380839.9:c.524+96T>C	ENSP00000370219.4:n.524+96T>C
ENST00000395331.3:c.539T>C	ENSP00000378740.3:p.Leu180Pro
ENST00000395331.4:c.539T>C	ENSP00000378740.3:p.Leu180Pro
ENST00000395332.7:c.539T>C	ENSP00000378741.3:p.Leu180Pro
ENST00000395332.8:c.539T>C	ENSP00000378741.3:p.Leu180Pro
ENST00000487982.5:n.605T>C
ENST00000671817.1:c.524+96T>C	ENSP00000500462.1:n.524+96T>C
ENST00000672498.1:c.447-971T>C	ENSP00000500227.1:n.447-971T>C
ENST00000672586.1:n.444T>C
ENST00000672676.1:n.709T>C
ENST00000673149.1:n.351T>C
ENST00000673350.1:n.787T>C
ENST00000673518.1:c.524+96T>C	ENSP00000499889.1:n.524+96T>C
ENST00000673594.1:n.388T>C