Canonical Allele Identifier: CA631290587
Gene: GALR1 HGNC NCBI

Linked Data

dbSNP Id: rs1227652305
gnomAD v2: 18-74980545-CACAG-C
gnomAD v4: 18-77268589-CACAG-C
MyVariant Identifiers: chr18:g.74980546_74980549del (hg19) chr18:g.77268590_77268593del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.77268594_77268597del , CM000680.2:g.77268594_77268597del GRCh38
NC_000018.9:g.74980550_74980553del , CM000680.1:g.74980550_74980553del GRCh37
NC_000018.8:g.73109538_73109541del NCBI36
NG_009223.1:g.23543_23546del

Transcript Alleles

HGVS Amino-acid Change
ENST00000299727.5:c.742_745del MANE Select ENSP00000299727.3:p.Thr248PhefsTer29
ENST00000299727.4:c.742_745del ENSP00000299727.3:p.Thr248PhefsTer29
NM_001480.3:c.742_745del NP_001471.2:p.Thr248PhefsTer29
NM_001480.4:c.742_745del MANE Select NP_001471.2:p.Thr248PhefsTer29
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