Canonical Allele Identifier: CA356777988

Gene: GABRA4

Linked Data

• MyVariant Identifiers: chr4:g.46995419G>A (hg19) ; chr4:g.46993402G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.46993402G>A , CM000666.2:g.46993402G>A	GRCh38
NC_000004.11:g.46995419G>A , CM000666.1:g.46995419G>A	GRCh37
NC_000004.10:g.46690176G>A	NCBI36
NG_011809.1:g.5162C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264318.4:c.23C>T MANE Select	ENSP00000264318.3:p.Pro8Leu
ENST00000264318.3:c.23C>T	ENSP00000264318.3:p.Pro8Leu
ENST00000502874.1:c.23C>T	ENSP00000424386.1:p.Pro8Leu
ENST00000508560.5:c.18+5C>T	ENSP00000425445.1:n.18+5C>T
ENST00000509316.1:n.147C>T
ENST00000511523.5:c.18+5C>T	ENSP00000422152.1:n.18+5C>T
NM_000809.3:c.23C>T	NP_000800.2:p.Pro8Leu
NM_001204266.1:c.29+5C>T	NP_001191195.1:n.29+5C>T
NM_001204267.1:c.29+5C>T	NP_001191196.1:n.29+5C>T
XM_011513677.1:c.23C>T	XP_011511979.1:p.Pro8Leu
NM_000809.4:c.23C>T MANE Select	NP_000800.2:p.Pro8Leu
NM_001204266.2:c.29+5C>T	NP_001191195.1:n.29+5C>T
NM_001204267.2:c.29+5C>T	NP_001191196.1:n.29+5C>T