Canonical Allele Identifier: CA2315413102
Gene: GALR1 HGNC NCBI

Linked Data

dbSNP Id: rs1912990891
gnomAD v4: 18-77268559-C-CTCG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.77268561_77268562insGTC , CM000680.2:g.77268561_77268562insGTC GRCh38
NC_000018.9:g.74980517_74980518insGTC , CM000680.1:g.74980517_74980518insGTC GRCh37
NC_000018.8:g.73109505_73109506insGTC NCBI36
NG_009223.1:g.23510_23511insGTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000299727.5:c.733-24_733-23insGTC MANE Select ENSP00000299727.3:n.733-24_733-23insGTC
ENST00000299727.4:c.733-24_733-23insGTC ENSP00000299727.3:n.733-24_733-23insGTC
NM_001480.3:c.733-24_733-23insGTC NP_001471.2:n.733-24_733-23insGTC
NM_001480.4:c.733-24_733-23insGTC MANE Select NP_001471.2:n.733-24_733-23insGTC
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