Canonical Allele Identifier: CA356803872
Gene: GABRG1 HGNC NCBI

Linked Data

gnomAD v4: 4-46123883-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46123883G>C , CM000666.2:g.46123883G>C GRCh38
NC_000004.11:g.46125900G>C , CM000666.1:g.46125900G>C GRCh37
NC_000004.10:g.45820657G>C NCBI36
NG_046964.1:g.5183C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295452.5:c.31C>G MANE Select ENSP00000295452.4:p.Pro11Ala
ENST00000295452.4:c.31C>G ENSP00000295452.4:p.Pro11Ala
NM_173536.3:c.31C>G NP_775807.2:p.Pro11Ala
NM_173536.4:c.31C>G MANE Select NP_775807.2:p.Pro11Ala