Canonical Allele Identifier: CA9005946

Gene: GALR1

Linked Data

• dbSNP Id: rs756350612
• ExAC: 18:74980501 T / G
• gnomAD v2: 18-74980501-T-G
• gnomAD v3: 18-77268545-T-G
• gnomAD v4: 18-77268545-T-G
• MyVariant Identifiers: chr18:g.74980501T>G (hg19) ; chr18:g.77268545T>G (hg38)

Genomic Alleles

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

Transcript Alleles

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