Canonical Allele Identifier: CA1141580655
Community Standard Title: NM_001008216.2(GALE):c.548T= (p.Leu183=)
Gene: GALE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23797128A= , CM000663.2:g.23797128A= GRCh38
NC_000001.10:g.24123618A= , CM000663.1:g.24123618A= GRCh37
NC_000001.9:g.23996205A= NCBI36
NG_007068.1:g.8677T=

Transcript Alleles

HGVS Amino-acid Change
NM_001008216.2:c.548T= MANE Select NP_001008217.1:p.Leu183=
ENST00000617979.5:c.548T= MANE Select ENSP00000483375.1:p.Leu183=
NM_000403.3:c.548T= NP_000394.2:p.Leu183=
NM_000403.4:c.548T= NP_000394.2:p.Leu183=
NM_001008216.1:c.548T= NP_001008217.1:p.Leu183=
NM_001127621.1:c.548T= NP_001121093.1:p.Leu183=
NM_001127621.2:c.548T= NP_001121093.1:p.Leu183=
ENST00000374497.7:c.548T= ENSP00000363621.3:p.Leu183=
ENST00000418277.5:c.356T= ENSP00000414719.1:p.Leu119=
ENST00000425913.5:c.548T= ENSP00000393359.1:p.Leu183=
ENST00000429356.5:c.356T= ENSP00000398585.1:p.Leu119=
ENST00000445705.1:c.548T= ENSP00000398257.1:p.Leu183=
ENST00000459934.5:n.666T=
ENST00000470949.5:n.493T=
ENST00000481736.5:n.952T=
ENST00000617979.4:c.548T= ENSP00000483375.1:p.Leu183=