Canonical Allele Identifier: CA339013691
Gene: GALE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23798164G>T , CM000663.2:g.23798164G>T GRCh38
NC_000001.10:g.24124654G>T , CM000663.1:g.24124654G>T GRCh37
NC_000001.9:g.23997241G>T NCBI36
NG_007068.1:g.7641C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000617979.5:c.304C>A MANE Select ENSP00000483375.1:p.Leu102Met
ENST00000374497.7:c.304C>A ENSP00000363621.3:p.Leu102Met
ENST00000418277.5:c.112C>A ENSP00000414719.1:p.Leu38Met
ENST00000425913.5:c.304C>A ENSP00000393359.1:p.Leu102Met
ENST00000429356.5:c.112C>A ENSP00000398585.1:p.Leu38Met
ENST00000445705.1:c.304C>A ENSP00000398257.1:p.Leu102Met
ENST00000459934.5:n.422C>A
ENST00000467493.5:n.764C>A
ENST00000470949.5:n.249C>A
ENST00000481736.5:n.708C>A
ENST00000486382.1:n.405C>A
ENST00000617979.4:c.304C>A ENSP00000483375.1:p.Leu102Met
NM_000403.3:c.304C>A NP_000394.2:p.Leu102Met
NM_001008216.1:c.304C>A NP_001008217.1:p.Leu102Met
NM_001127621.1:c.304C>A NP_001121093.1:p.Leu102Met
NM_001008216.2:c.304C>A MANE Select NP_001008217.1:p.Leu102Met
NM_000403.4:c.304C>A NP_000394.2:p.Leu102Met
NM_001127621.2:c.304C>A NP_001121093.1:p.Leu102Met