Canonical Allele Identifier: CA2670516178
Gene: GABRG1 HGNC NCBI

Linked Data

gnomAD v4: 4-46123739-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46123739T>G , CM000666.2:g.46123739T>G GRCh38
NC_000004.11:g.46125756T>G , CM000666.1:g.46125756T>G GRCh37
NC_000004.10:g.45820513T>G NCBI36
NG_046964.1:g.5327A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295452.5:c.104+71A>C MANE Select ENSP00000295452.4:n.104+71A>C
ENST00000295452.4:c.104+71A>C ENSP00000295452.4:n.104+71A>C
NM_173536.3:c.104+71A>C NP_775807.2:n.104+71A>C
NM_173536.4:c.104+71A>C MANE Select NP_775807.2:n.104+71A>C
Search 100 bp 5'
Search 100 bp 3'