Canonical Allele Identifier: CA10626304
Community Standard Title: NM_000048.4(ASL):c.-44+9G>A
Gene: ASL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66075865G>A , CM000669.2:g.66075865G>A GRCh38
NC_000007.13:g.65540852G>A , CM000669.1:g.65540852G>A GRCh37
NC_000007.12:g.65178287G>A NCBI36
NG_009288.1:g.5077G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000048.4:c.-44+9G>A MANE Select NP_000039.2:n.-44+9G>A
ENST00000304874.14:c.-44+9G>A MANE Select ENSP00000307188.9:n.-44+9G>A
NM_000048.3:c.-44+9G>A NP_000039.2:n.-44+9G>A
NM_001024943.1:c.-217G>A NP_001020114.1:n.-217G>A
NM_001024943.2:c.-217G>A NP_001020114.1:n.-217G>A
NM_001024944.1:c.-217G>A NP_001020115.1:n.-217G>A
NM_001024944.2:c.-217G>A NP_001020115.1:n.-217G>A
NM_001024946.1:c.-217G>A NP_001020117.1:n.-217G>A
NM_001024946.2:c.-217G>A NP_001020117.1:n.-217G>A
ENST00000304874.13:c.-44+9G>A ENSP00000307188.9:n.-44+9G>A
ENST00000380839.9:c.-217G>A ENSP00000370219.4:n.-217G>A
ENST00000487982.5:n.23+9G>A
ENST00000496336.1:n.25G>A
ENST00000672498.1:c.-217G>A ENSP00000500227.1:n.-217G>A
ENST00000672586.1:n.57+9G>A
ENST00000673350.1:n.32G>A
ENST00000673518.1:c.-44+9G>A ENSP00000499889.1:n.-44+9G>A