Canonical Allele Identifier: CA339013345

Gene: GALE

Linked Data

• MyVariant Identifiers: chr1:g.24124616C>A (hg19) ; chr1:g.23798126C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23798126C>A , CM000663.2:g.23798126C>A	GRCh38
NC_000001.10:g.24124616C>A , CM000663.1:g.24124616C>A	GRCh37
NC_000001.9:g.23997203C>A	NCBI36
NG_007068.1:g.7679G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617979.5:c.342G>T MANE Select	ENSP00000483375.1:p.Gln114His
ENST00000374497.7:c.342G>T	ENSP00000363621.3:p.Gln114His
ENST00000418277.5:c.150G>T	ENSP00000414719.1:p.Gln50His
ENST00000425913.5:c.342G>T	ENSP00000393359.1:p.Gln114His
ENST00000429356.5:c.150G>T	ENSP00000398585.1:p.Gln50His
ENST00000445705.1:c.342G>T	ENSP00000398257.1:p.Gln114His
ENST00000459934.5:n.460G>T
ENST00000467493.5:n.802G>T
ENST00000470949.5:n.287G>T
ENST00000481736.5:n.746G>T
ENST00000486382.1:n.443G>T
ENST00000617979.4:c.342G>T	ENSP00000483375.1:p.Gln114His
NM_000403.3:c.342G>T	NP_000394.2:p.Gln114His
NM_001008216.1:c.342G>T	NP_001008217.1:p.Gln114His
NM_001127621.1:c.342G>T	NP_001121093.1:p.Gln114His
NM_001008216.2:c.342G>T MANE Select	NP_001008217.1:p.Gln114His
NM_000403.4:c.342G>T	NP_000394.2:p.Gln114His
NM_001127621.2:c.342G>T	NP_001121093.1:p.Gln114His