Canonical Allele Identifier: CA2670526371
Gene: GABRA4 HGNC NCBI

Linked Data

gnomAD v4: 4-46993271-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46993271A>G , CM000666.2:g.46993271A>G GRCh38
NC_000004.11:g.46995288A>G , CM000666.1:g.46995288A>G GRCh37
NC_000004.10:g.46690045A>G NCBI36
NG_011809.1:g.5293T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264318.4:c.86+68T>C MANE Select ENSP00000264318.3:n.86+68T>C
ENST00000264318.3:c.86+68T>C ENSP00000264318.3:n.86+68T>C
ENST00000502874.1:c.86+68T>C ENSP00000424386.1:n.86+68T>C
ENST00000508560.5:c.18+136T>C ENSP00000425445.1:n.18+136T>C
ENST00000509316.1:n.210+68T>C
ENST00000511523.5:c.18+136T>C ENSP00000422152.1:n.18+136T>C
NM_000809.3:c.86+68T>C NP_000800.2:n.86+68T>C
NM_001204266.1:c.29+136T>C NP_001191195.1:n.29+136T>C
NM_001204267.1:c.29+136T>C NP_001191196.1:n.29+136T>C
XM_011513677.1:c.86+68T>C XP_011511979.1:n.86+68T>C
NM_000809.4:c.86+68T>C MANE Select NP_000800.2:n.86+68T>C
NM_001204266.2:c.29+136T>C NP_001191195.1:n.29+136T>C
NM_001204267.2:c.29+136T>C NP_001191196.1:n.29+136T>C