Canonical Allele Identifier: CA992096062
Gene: GALR1 HGNC NCBI

Linked Data

dbSNP Id: rs1912989460
gnomAD v3: 18-77268539-A-C
gnomAD v4: 18-77268539-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.77268539A>C , CM000680.2:g.77268539A>C GRCh38
NC_000018.9:g.74980495A>C , CM000680.1:g.74980495A>C GRCh37
NC_000018.8:g.73109483A>C NCBI36
NG_009223.1:g.23488A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000299727.5:c.733-46A>C MANE Select ENSP00000299727.3:n.733-46A>C
ENST00000299727.4:c.733-46A>C ENSP00000299727.3:n.733-46A>C
NM_001480.3:c.733-46A>C NP_001471.2:n.733-46A>C
NM_001480.4:c.733-46A>C MANE Select NP_001471.2:n.733-46A>C
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