Canonical Allele Identifier: CA2642312148
Gene: GALR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.77268545T>C , CM000680.2:g.77268545T>C GRCh38
NC_000018.9:g.74980501T>C , CM000680.1:g.74980501T>C GRCh37
NC_000018.8:g.73109489T>C NCBI36
NG_009223.1:g.23494T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000299727.5:c.733-40T>C MANE Select ENSP00000299727.3:n.733-40T>C
ENST00000299727.4:c.733-40T>C ENSP00000299727.3:n.733-40T>C
NM_001480.3:c.733-40T>C NP_001471.2:n.733-40T>C
NM_001480.4:c.733-40T>C MANE Select NP_001471.2:n.733-40T>C