Canonical Allele Identifier: CA416691038

Gene: GALE

Linked Data

• gnomAD v4: 1-23798120-C-T
• MyVariant Identifiers: chr1:g.24124610C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23798120C>T , CM000663.2:g.23798120C>T	GRCh38
NC_000001.10:g.24124610C>T , CM000663.1:g.24124610C>T	GRCh37
NC_000001.9:g.23997197C>T	NCBI36
NG_007068.1:g.7685G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617979.5:c.348G>A MANE Select	ENSP00000483375.1:p.Leu116=
ENST00000374497.7:c.348G>A	ENSP00000363621.3:p.Leu116=
ENST00000418277.5:c.156G>A	ENSP00000414719.1:p.Leu52=
ENST00000425913.5:c.348G>A	ENSP00000393359.1:p.Leu116=
ENST00000429356.5:c.156G>A	ENSP00000398585.1:p.Leu52=
ENST00000445705.1:c.348G>A	ENSP00000398257.1:p.Leu116=
ENST00000459934.5:n.466G>A
ENST00000467493.5:n.808G>A
ENST00000470949.5:n.293G>A
ENST00000481736.5:n.752G>A
ENST00000486382.1:n.449G>A
ENST00000617979.4:c.348G>A	ENSP00000483375.1:p.Leu116=
NM_000403.3:c.348G>A	NP_000394.2:p.Leu116=
NM_001008216.1:c.348G>A	NP_001008217.1:p.Leu116=
NM_001127621.1:c.348G>A	NP_001121093.1:p.Leu116=
NM_001008216.2:c.348G>A MANE Select	NP_001008217.1:p.Leu116=
NM_000403.4:c.348G>A	NP_000394.2:p.Leu116=
NM_001127621.2:c.348G>A	NP_001121093.1:p.Leu116=