Canonical Allele Identifier: CA504863546
Gene: GALR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.74980546A>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.77268590A>T , CM000680.2:g.77268590A>T GRCh38
NC_000018.9:g.74980546A>T , CM000680.1:g.74980546A>T GRCh37
NC_000018.8:g.73109534A>T NCBI36
NG_009223.1:g.23539A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299727.5:c.738A>T MANE Select ENSP00000299727.3:p.Ala246=
ENST00000299727.4:c.738A>T ENSP00000299727.3:p.Ala246=
NM_001480.3:c.738A>T NP_001471.2:p.Ala246=
NM_001480.4:c.738A>T MANE Select NP_001471.2:p.Ala246=
Search 100 bp 5'
Search 100 bp 3'