Canonical Allele Identifier: CA356777756
Gene: GABRA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46993355G>C , CM000666.2:g.46993355G>C GRCh38
NC_000004.11:g.46995372G>C , CM000666.1:g.46995372G>C GRCh37
NC_000004.10:g.46690129G>C NCBI36
NG_011809.1:g.5209C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264318.4:c.70C>G MANE Select ENSP00000264318.3:p.Leu24Val
ENST00000264318.3:c.70C>G ENSP00000264318.3:p.Leu24Val
ENST00000502874.1:c.70C>G ENSP00000424386.1:p.Leu24Val
ENST00000508560.5:c.18+52C>G ENSP00000425445.1:n.18+52C>G
ENST00000509316.1:n.194C>G
ENST00000511523.5:c.18+52C>G ENSP00000422152.1:n.18+52C>G
NM_000809.3:c.70C>G NP_000800.2:p.Leu24Val
NM_001204266.1:c.29+52C>G NP_001191195.1:n.29+52C>G
NM_001204267.1:c.29+52C>G NP_001191196.1:n.29+52C>G
XM_011513677.1:c.70C>G XP_011511979.1:p.Leu24Val
NM_000809.4:c.70C>G MANE Select NP_000800.2:p.Leu24Val
NM_001204266.2:c.29+52C>G NP_001191195.1:n.29+52C>G
NM_001204267.2:c.29+52C>G NP_001191196.1:n.29+52C>G