Canonical Allele Identifier: CA2500063991

Gene: GALE

Linked Data

• gnomAD v4: 1-23798416-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23798416C>A , CM000663.2:g.23798416C>A	GRCh38
NC_000001.10:g.24124906C>A , CM000663.1:g.24124906C>A	GRCh37
NC_000001.9:g.23997493C>A	NCBI36
NG_007068.1:g.7389G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617979.5:c.238-186G>T MANE Select	ENSP00000483375.1:n.238-186G>T
ENST00000374497.7:c.238-186G>T	ENSP00000363621.3:n.238-186G>T
ENST00000418277.5:c.46-186G>T	ENSP00000414719.1:n.46-186G>T
ENST00000425913.5:c.238-186G>T	ENSP00000393359.1:n.238-186G>T
ENST00000429356.5:c.46-186G>T	ENSP00000398585.1:n.46-186G>T
ENST00000445705.1:c.238-186G>T	ENSP00000398257.1:n.238-186G>T
ENST00000459934.5:n.356-186G>T
ENST00000466250.5:n.562G>T
ENST00000467493.5:n.512G>T
ENST00000470383.1:n.1984G>T
ENST00000470949.5:n.188-191G>T
ENST00000481736.5:n.456G>T
ENST00000486382.1:n.344-191G>T
ENST00000617979.4:c.238-186G>T	ENSP00000483375.1:n.238-186G>T
NM_000403.3:c.238-186G>T	NP_000394.2:n.238-186G>T
NM_001008216.1:c.238-186G>T	NP_001008217.1:n.238-186G>T
NM_001127621.1:c.238-186G>T	NP_001121093.1:n.238-186G>T
NM_001008216.2:c.238-186G>T MANE Select	NP_001008217.1:n.238-186G>T
NM_000403.4:c.238-186G>T	NP_000394.2:n.238-186G>T
NM_001127621.2:c.238-186G>T	NP_001121093.1:n.238-186G>T