Canonical Allele Identifier: CA2642312042
Gene: GALR1 HGNC NCBI

Linked Data

gnomAD v4: 18-77268472-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.77268472G>A , CM000680.2:g.77268472G>A GRCh38
NC_000018.9:g.74980428G>A , CM000680.1:g.74980428G>A GRCh37
NC_000018.8:g.73109416G>A NCBI36
NG_009223.1:g.23421G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299727.5:c.733-113G>A MANE Select ENSP00000299727.3:n.733-113G>A
ENST00000299727.4:c.733-113G>A ENSP00000299727.3:n.733-113G>A
NM_001480.3:c.733-113G>A NP_001471.2:n.733-113G>A
NM_001480.4:c.733-113G>A MANE Select NP_001471.2:n.733-113G>A
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