Canonical Allele Identifier: CA252856
Gene: GALE HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.23798160T>C
GRCh37 chr1:g.24124650T>C
Revel Score:
ENST00000374498 0.671
ENST00000374497 0.671
ENST00000429356 0.671
ENST00000418277 0.671
ENST00000425913 0.671
ENST00000445705 0.671
gnomAD v2:
1:24124650 T / C
gnomAD v4:
chr1-23798160-T-C
Joint Max Group AF 0.00000739 (EAS)
Exomes Max Group AF 0.00000835 (EAS)
ClinVar RCV:
RCV000003863
ClinVar Variation:
3678
dbSNP:
28940883
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23798160T>C , CM000663.2:g.23798160T>C GRCh38
NC_000001.10:g.24124650T>C , CM000663.1:g.24124650T>C GRCh37
NC_000001.9:g.23997237T>C NCBI36
NG_007068.1:g.7645A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000617979.5:c.308A>G MANE Select ENSP00000483375.1:p.Asp103Gly
ENST00000374497.7:c.308A>G ENSP00000363621.3:p.Asp103Gly
ENST00000418277.5:c.116A>G ENSP00000414719.1:p.Asp39Gly
ENST00000425913.5:c.308A>G ENSP00000393359.1:p.Asp103Gly
ENST00000429356.5:c.116A>G ENSP00000398585.1:p.Asp39Gly
ENST00000445705.1:c.308A>G ENSP00000398257.1:p.Asp103Gly
ENST00000459934.5:n.426A>G
ENST00000467493.5:n.768A>G
ENST00000470949.5:n.253A>G
ENST00000481736.5:n.712A>G
ENST00000486382.1:n.409A>G
ENST00000617979.4:c.308A>G ENSP00000483375.1:p.Asp103Gly
NM_000403.3:c.308A>G NP_000394.2:p.Asp103Gly
NM_001008216.1:c.308A>G NP_001008217.1:p.Asp103Gly
NM_001127621.1:c.308A>G NP_001121093.1:p.Asp103Gly
NM_001008216.2:c.308A>G MANE Select NP_001008217.1:p.Asp103Gly
NM_000403.4:c.308A>G NP_000394.2:p.Asp103Gly
NM_001127621.2:c.308A>G NP_001121093.1:p.Asp103Gly
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