Canonical Allele Identifier: CA439236957
Gene: GABRG1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.46125849G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46123832G>A , CM000666.2:g.46123832G>A GRCh38
NC_000004.11:g.46125849G>A , CM000666.1:g.46125849G>A GRCh37
NC_000004.10:g.45820606G>A NCBI36
NG_046964.1:g.5234C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295452.5:c.82C>T MANE Select ENSP00000295452.4:p.Leu28=
ENST00000295452.4:c.82C>T ENSP00000295452.4:p.Leu28=
NM_173536.3:c.82C>T NP_775807.2:p.Leu28=
NM_173536.4:c.82C>T MANE Select NP_775807.2:p.Leu28=