Canonical Allele Identifier: CA2578079206
Gene: GABRA4 HGNC NCBI

Linked Data

gnomAD v4: 4-46993261-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46993261C>T , CM000666.2:g.46993261C>T GRCh38
NC_000004.11:g.46995278C>T , CM000666.1:g.46995278C>T GRCh37
NC_000004.10:g.46690035C>T NCBI36
NG_011809.1:g.5303G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264318.4:c.86+78G>A MANE Select ENSP00000264318.3:n.86+78G>A
ENST00000264318.3:c.86+78G>A ENSP00000264318.3:n.86+78G>A
ENST00000502874.1:c.86+78G>A ENSP00000424386.1:n.86+78G>A
ENST00000508560.5:c.18+146G>A ENSP00000425445.1:n.18+146G>A
ENST00000509316.1:n.210+78G>A
ENST00000511523.5:c.18+146G>A ENSP00000422152.1:n.18+146G>A
NM_000809.3:c.86+78G>A NP_000800.2:n.86+78G>A
NM_001204266.1:c.29+146G>A NP_001191195.1:n.29+146G>A
NM_001204267.1:c.29+146G>A NP_001191196.1:n.29+146G>A
XM_011513677.1:c.86+78G>A XP_011511979.1:n.86+78G>A
NM_000809.4:c.86+78G>A MANE Select NP_000800.2:n.86+78G>A
NM_001204266.2:c.29+146G>A NP_001191195.1:n.29+146G>A
NM_001204267.2:c.29+146G>A NP_001191196.1:n.29+146G>A
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