Canonical Allele Identifier: CA339014001

Gene: GALE

Linked Data

• dbSNP Id: rs1639022455
• gnomAD v4: 1-23798193-T-C
• MyVariant Identifiers: chr1:g.24124683T>C (hg19) ; chr1:g.23798193T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23798193T>C , CM000663.2:g.23798193T>C	GRCh38
NC_000001.10:g.24124683T>C , CM000663.1:g.24124683T>C	GRCh37
NC_000001.9:g.23997270T>C	NCBI36
NG_007068.1:g.7612A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617979.5:c.275A>G MANE Select	ENSP00000483375.1:p.Lys92Arg
ENST00000374497.7:c.275A>G	ENSP00000363621.3:p.Lys92Arg
ENST00000418277.5:c.83A>G	ENSP00000414719.1:p.Lys28Arg
ENST00000425913.5:c.275A>G	ENSP00000393359.1:p.Lys92Arg
ENST00000429356.5:c.83A>G	ENSP00000398585.1:p.Lys28Arg
ENST00000445705.1:c.275A>G	ENSP00000398257.1:p.Lys92Arg
ENST00000459934.5:n.393A>G
ENST00000467493.5:n.735A>G
ENST00000470949.5:n.220A>G
ENST00000481736.5:n.679A>G
ENST00000486382.1:n.376A>G
ENST00000617979.4:c.275A>G	ENSP00000483375.1:p.Lys92Arg
NM_000403.3:c.275A>G	NP_000394.2:p.Lys92Arg
NM_001008216.1:c.275A>G	NP_001008217.1:p.Lys92Arg
NM_001127621.1:c.275A>G	NP_001121093.1:p.Lys92Arg
NM_001008216.2:c.275A>G MANE Select	NP_001008217.1:p.Lys92Arg
NM_000403.4:c.275A>G	NP_000394.2:p.Lys92Arg
NM_001127621.2:c.275A>G	NP_001121093.1:p.Lys92Arg