Canonical Allele Identifier: CA685655
Gene: GALE HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.23797718G>T
GRCh37 chr1:g.24124208G>T
gnomAD v2:
1:24124208 G / T
gnomAD v3:
1:23797718 G / T
gnomAD v4:
chr1-23797718-G-T
Joint Max Group AF 0.00003748 (NFE)
Genomes Max Group AF 0.000008 (AFR)
Exomes Max Group AF 0.0000389 (NFE)
ClinVar RCV:
RCV003504439
ClinVar Variation:
2731765
dbSNP:
137853859
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23797718G>T , CM000663.2:g.23797718G>T GRCh38
NC_000001.10:g.24124208G>T , CM000663.1:g.24124208G>T GRCh37
NC_000001.9:g.23996795G>T NCBI36
NG_007068.1:g.8087C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000617979.5:c.505C>A MANE Select ENSP00000483375.1:p.Arg169=
ENST00000374497.7:c.505C>A ENSP00000363621.3:p.Arg169=
ENST00000418277.5:c.313C>A ENSP00000414719.1:p.Arg105=
ENST00000425913.5:c.505C>A ENSP00000393359.1:p.Arg169=
ENST00000429356.5:c.313C>A ENSP00000398585.1:p.Arg105=
ENST00000445705.1:c.505C>A ENSP00000398257.1:p.Arg169=
ENST00000459934.5:n.623C>A
ENST00000467493.5:n.965C>A
ENST00000470949.5:n.450C>A
ENST00000481736.5:n.909C>A
ENST00000617979.4:c.505C>A ENSP00000483375.1:p.Arg169=
NM_000403.3:c.505C>A NP_000394.2:p.Arg169=
NM_001008216.1:c.505C>A NP_001008217.1:p.Arg169=
NM_001127621.1:c.505C>A NP_001121093.1:p.Arg169=
NM_001008216.2:c.505C>A MANE Select NP_001008217.1:p.Arg169=
NM_000403.4:c.505C>A NP_000394.2:p.Arg169=
NM_001127621.2:c.505C>A NP_001121093.1:p.Arg169=
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