Canonical Allele Identifier: CA402807167
Gene: GALR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.74980544G>C (hg19) chr18:g.77268588G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.77268588G>C , CM000680.2:g.77268588G>C GRCh38
NC_000018.9:g.74980544G>C , CM000680.1:g.74980544G>C GRCh37
NC_000018.8:g.73109532G>C NCBI36
NG_009223.1:g.23537G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000299727.5:c.736G>C MANE Select ENSP00000299727.3:p.Ala246Pro
ENST00000299727.4:c.736G>C ENSP00000299727.3:p.Ala246Pro
NM_001480.3:c.736G>C NP_001471.2:p.Ala246Pro
NM_001480.4:c.736G>C MANE Select NP_001471.2:p.Ala246Pro
Search 100 bp 5'
Search 100 bp 3'