Canonical Allele Identifier: CA416691151

Gene: GALE

Linked Data

• ClinVar Variation Id: 2904928
• ClinVar RCV Id: RCV003609684
• dbSNP Id: rs1383173678
• gnomAD v2: 1-24124706-C-T
• gnomAD v3: 1-23798216-C-T
• gnomAD v4: 1-23798216-C-T
• MyVariant Identifiers: chr1:g.24124706C>T (hg19) ; chr1:g.23798216C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23798216C>T , CM000663.2:g.23798216C>T	GRCh38
NC_000001.10:g.24124706C>T , CM000663.1:g.24124706C>T	GRCh37
NC_000001.9:g.23997293C>T	NCBI36
NG_007068.1:g.7589G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617979.5:c.252G>A MANE Select	ENSP00000483375.1:p.Ala84=
ENST00000374497.7:c.252G>A	ENSP00000363621.3:p.Ala84=
ENST00000418277.5:c.60G>A	ENSP00000414719.1:p.Ala20=
ENST00000425913.5:c.252G>A	ENSP00000393359.1:p.Ala84=
ENST00000429356.5:c.60G>A	ENSP00000398585.1:p.Ala20=
ENST00000445705.1:c.252G>A	ENSP00000398257.1:p.Ala84=
ENST00000459934.5:n.370G>A
ENST00000467493.5:n.712G>A
ENST00000470949.5:n.197G>A
ENST00000481736.5:n.656G>A
ENST00000486382.1:n.353G>A
ENST00000617979.4:c.252G>A	ENSP00000483375.1:p.Ala84=
NM_000403.3:c.252G>A	NP_000394.2:p.Ala84=
NM_001008216.1:c.252G>A	NP_001008217.1:p.Ala84=
NM_001127621.1:c.252G>A	NP_001121093.1:p.Ala84=
NM_001008216.2:c.252G>A MANE Select	NP_001008217.1:p.Ala84=
NM_000403.4:c.252G>A	NP_000394.2:p.Ala84=
NM_001127621.2:c.252G>A	NP_001121093.1:p.Ala84=