Canonical Allele Identifier: CA402807172
Gene: GALR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.74980545C>A (hg19) chr18:g.77268589C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.77268589C>A , CM000680.2:g.77268589C>A GRCh38
NC_000018.9:g.74980545C>A , CM000680.1:g.74980545C>A GRCh37
NC_000018.8:g.73109533C>A NCBI36
NG_009223.1:g.23538C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299727.5:c.737C>A MANE Select ENSP00000299727.3:p.Ala246Glu
ENST00000299727.4:c.737C>A ENSP00000299727.3:p.Ala246Glu
NM_001480.3:c.737C>A NP_001471.2:p.Ala246Glu
NM_001480.4:c.737C>A MANE Select NP_001471.2:p.Ala246Glu
Search 100 bp 5'
Search 100 bp 3'