Canonical Allele Identifier: CA302941747
Gene: GALR1 HGNC NCBI

Linked Data

dbSNP Id: rs1038645297
gnomAD v4: 18-77268490-T-C
MyVariant Identifiers: chr18:g.74980446T>C (hg19) chr18:g.77268490T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.77268490T>C , CM000680.2:g.77268490T>C GRCh38
NC_000018.9:g.74980446T>C , CM000680.1:g.74980446T>C GRCh37
NC_000018.8:g.73109434T>C NCBI36
NG_009223.1:g.23439T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299727.5:c.733-95T>C MANE Select ENSP00000299727.3:n.733-95T>C
ENST00000299727.4:c.733-95T>C ENSP00000299727.3:n.733-95T>C
NM_001480.3:c.733-95T>C NP_001471.2:n.733-95T>C
NM_001480.4:c.733-95T>C MANE Select NP_001471.2:n.733-95T>C
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