Canonical Allele Identifier: CA2315413101
Gene: GALR1 HGNC NCBI

Linked Data

dbSNP Id: rs1912990939
gnomAD v4: 18-77268559-C-CTCCTCCTCCTCT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.77268562_77268573dup , CM000680.2:g.77268562_77268573dup GRCh38
NC_000018.9:g.74980518_74980529dup , CM000680.1:g.74980518_74980529dup GRCh37
NC_000018.8:g.73109506_73109517dup NCBI36
NG_009223.1:g.23511_23522dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000299727.5:c.733-23_733-12dup MANE Select ENSP00000299727.3:n.733-23_733-12dup
ENST00000299727.4:c.733-23_733-12dup ENSP00000299727.3:n.733-23_733-12dup
NM_001480.3:c.733-23_733-12dup NP_001471.2:n.733-23_733-12dup
NM_001480.4:c.733-23_733-12dup MANE Select NP_001471.2:n.733-23_733-12dup
Search 100 bp 5'
Search 100 bp 3'