Canonical Allele Identifier: CA439168474
Gene: GABRA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.46995364C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46993347C>T , CM000666.2:g.46993347C>T GRCh38
NC_000004.11:g.46995364C>T , CM000666.1:g.46995364C>T GRCh37
NC_000004.10:g.46690121C>T NCBI36
NG_011809.1:g.5217G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264318.4:c.78G>A MANE Select ENSP00000264318.3:p.Leu26=
ENST00000264318.3:c.78G>A ENSP00000264318.3:p.Leu26=
ENST00000502874.1:c.78G>A ENSP00000424386.1:p.Leu26=
ENST00000508560.5:c.18+60G>A ENSP00000425445.1:n.18+60G>A
ENST00000509316.1:n.202G>A
ENST00000511523.5:c.18+60G>A ENSP00000422152.1:n.18+60G>A
NM_000809.3:c.78G>A NP_000800.2:p.Leu26=
NM_001204266.1:c.29+60G>A NP_001191195.1:n.29+60G>A
NM_001204267.1:c.29+60G>A NP_001191196.1:n.29+60G>A
XM_011513677.1:c.78G>A XP_011511979.1:p.Leu26=
NM_000809.4:c.78G>A MANE Select NP_000800.2:p.Leu26=
NM_001204266.2:c.29+60G>A NP_001191195.1:n.29+60G>A
NM_001204267.2:c.29+60G>A NP_001191196.1:n.29+60G>A