Canonical Allele Identifier: CA220715

Gene: GALE

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23796183C>T , CM000663.2:g.23796183C>T	GRCh38
NC_000001.10:g.24122673C>T , CM000663.1:g.24122673C>T	GRCh37
NC_000001.9:g.23995260C>T	NCBI36
NG_007068.1:g.9622G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617979.5:c.956G>A MANE Select	ENSP00000483375.1:p.Gly319Glu
ENST00000374497.7:c.956G>A	ENSP00000363621.3:p.Gly319Glu
ENST00000429356.5:c.686G>A	ENSP00000398585.1:p.Gly229Glu
ENST00000456977.5:c.236G>A	ENSP00000397045.1:p.Gly79Glu
ENST00000459934.5:n.1184G>A
ENST00000469556.1:n.703G>A
ENST00000481736.5:n.1360G>A
ENST00000617979.4:c.956G>A	ENSP00000483375.1:p.Gly319Glu
NM_000403.3:c.956G>A	NP_000394.2:p.Gly319Glu
NM_001008216.1:c.956G>A	NP_001008217.1:p.Gly319Glu
NM_001127621.1:c.956G>A	NP_001121093.1:p.Gly319Glu
NM_001008216.2:c.956G>A MANE Select	NP_001008217.1:p.Gly319Glu
NM_000403.4:c.956G>A	NP_000394.2:p.Gly319Glu
NM_001127621.2:c.956G>A	NP_001121093.1:p.Gly319Glu