Canonical Allele Identifier: CA2907342
Gene: GABRA4 HGNC NCBI

Linked Data

dbSNP Id: rs2229940
gnomAD v2: 4-46995366-G-T
gnomAD v3: 4-46993349-G-T
gnomAD v4: 4-46993349-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46993349G>T , CM000666.2:g.46993349G>T GRCh38
NC_000004.11:g.46995366G>T , CM000666.1:g.46995366G>T GRCh37
NC_000004.10:g.46690123G>T NCBI36
NG_011809.1:g.5215C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264318.4:c.76C>A MANE Select ENSP00000264318.3:p.Leu26Met
ENST00000264318.3:c.76C>A ENSP00000264318.3:p.Leu26Met
ENST00000502874.1:c.76C>A ENSP00000424386.1:p.Leu26Met
ENST00000508560.5:c.18+58C>A ENSP00000425445.1:n.18+58C>A
ENST00000509316.1:n.200C>A
ENST00000511523.5:c.18+58C>A ENSP00000422152.1:n.18+58C>A
NM_000809.3:c.76C>A NP_000800.2:p.Leu26Met
NM_001204266.1:c.29+58C>A NP_001191195.1:n.29+58C>A
NM_001204267.1:c.29+58C>A NP_001191196.1:n.29+58C>A
XM_011513677.1:c.76C>A XP_011511979.1:p.Leu26Met
NM_000809.4:c.76C>A MANE Select NP_000800.2:p.Leu26Met
NM_001204266.2:c.29+58C>A NP_001191195.1:n.29+58C>A
NM_001204267.2:c.29+58C>A NP_001191196.1:n.29+58C>A