Canonical Allele Identifier: CA9005956
Gene: GALR1 HGNC NCBI

Linked Data

dbSNP Id: rs372563454
ExAC: 18:74980527 T / C
gnomAD v2: 18-74980527-T-C
gnomAD v3: 18-77268571-T-C
gnomAD v4: 18-77268571-T-C
MyVariant Identifiers: chr18:g.74980527T>C (hg19) chr18:g.77268571T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.77268571T>C , CM000680.2:g.77268571T>C GRCh38
NC_000018.9:g.74980527T>C , CM000680.1:g.74980527T>C GRCh37
NC_000018.8:g.73109515T>C NCBI36
NG_009223.1:g.23520T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299727.5:c.733-14T>C MANE Select ENSP00000299727.3:n.733-14T>C
ENST00000299727.4:c.733-14T>C ENSP00000299727.3:n.733-14T>C
NM_001480.3:c.733-14T>C NP_001471.2:n.733-14T>C
NM_001480.4:c.733-14T>C MANE Select NP_001471.2:n.733-14T>C
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