Canonical Allele Identifier: CA97039426
Gene: GABRG1 HGNC NCBI

Linked Data

dbSNP Id: rs1006509143
gnomAD v2: 4-46125890-A-C
gnomAD v3: 4-46123873-A-C
gnomAD v4: 4-46123873-A-C
MyVariant Identifiers: chr4:g.46125890A>C (hg19) chr4:g.46123873A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46123873A>C , CM000666.2:g.46123873A>C GRCh38
NC_000004.11:g.46125890A>C , CM000666.1:g.46125890A>C GRCh37
NC_000004.10:g.45820647A>C NCBI36
NG_046964.1:g.5193T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295452.5:c.41T>G MANE Select ENSP00000295452.4:p.Leu14Arg
ENST00000295452.4:c.41T>G ENSP00000295452.4:p.Leu14Arg
NM_173536.3:c.41T>G NP_775807.2:p.Leu14Arg
NM_173536.4:c.41T>G MANE Select NP_775807.2:p.Leu14Arg
Search 100 bp 5'
Search 100 bp 3'