Canonical Allele Identifier: CA992096056
Gene: GALR1 HGNC NCBI

Linked Data

dbSNP Id: rs975707787
gnomAD v3: 18-77268468-G-T
gnomAD v4: 18-77268468-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.77268468G>T , CM000680.2:g.77268468G>T GRCh38
NC_000018.9:g.74980424G>T , CM000680.1:g.74980424G>T GRCh37
NC_000018.8:g.73109412G>T NCBI36
NG_009223.1:g.23417G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000299727.5:c.733-117G>T MANE Select ENSP00000299727.3:n.733-117G>T
ENST00000299727.4:c.733-117G>T ENSP00000299727.3:n.733-117G>T
NM_001480.3:c.733-117G>T NP_001471.2:n.733-117G>T
NM_001480.4:c.733-117G>T MANE Select NP_001471.2:n.733-117G>T
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