Canonical Allele Identifier: CA416691087

Gene: GALE

Linked Data

• dbSNP Id: rs1203828686
• COSMIC: COSM3486096
• MyVariant Identifiers: chr1:g.24124654G>A (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617979.5:c.304C>T MANE Select	ENSP00000483375.1:p.Leu102=
ENST00000374497.7:c.304C>T	ENSP00000363621.3:p.Leu102=
ENST00000418277.5:c.112C>T	ENSP00000414719.1:p.Leu38=
ENST00000425913.5:c.304C>T	ENSP00000393359.1:p.Leu102=
ENST00000429356.5:c.112C>T	ENSP00000398585.1:p.Leu38=
ENST00000445705.1:c.304C>T	ENSP00000398257.1:p.Leu102=
ENST00000459934.5:n.422C>T
ENST00000467493.5:n.764C>T
ENST00000470949.5:n.249C>T
ENST00000481736.5:n.708C>T
ENST00000486382.1:n.405C>T
ENST00000617979.4:c.304C>T	ENSP00000483375.1:p.Leu102=
NM_000403.3:c.304C>T	NP_000394.2:p.Leu102=
NM_001008216.1:c.304C>T	NP_001008217.1:p.Leu102=
NM_001127621.1:c.304C>T	NP_001121093.1:p.Leu102=
NM_001008216.2:c.304C>T MANE Select	NP_001008217.1:p.Leu102=
NM_000403.4:c.304C>T	NP_000394.2:p.Leu102=
NM_001127621.2:c.304C>T	NP_001121093.1:p.Leu102=