Canonical Allele Identifier: CA97302438

Gene: GABRB1

Linked Data

• dbSNP Id: rs544419057
• gnomAD v2: 4-47409025-G-A
• gnomAD v3: 4-47407008-G-A
• gnomAD v4: 4-47407008-G-A
• MyVariant Identifiers: chr4:g.47409025G>A (hg19) ; chr4:g.47407008G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47407008G>A , CM000666.2:g.47407008G>A	GRCh38
NC_000004.11:g.47409025G>A , CM000666.1:g.47409025G>A	GRCh37
NC_000004.10:g.47103782G>A	NCBI36
NG_051831.1:g.380731G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295454.8:c.1080+82G>A MANE Select	ENSP00000295454.3:n.1080+82G>A
ENST00000295454.7:c.1080+82G>A	ENSP00000295454.3:n.1080+82G>A
NM_000812.3:c.1080+82G>A	NP_000803.2:n.1080+82G>A
XM_011513678.1:c.1059+82G>A	XP_011511980.1:n.1059+82G>A
XM_017007985.1:c.429+82G>A	XP_016863474.1:n.429+82G>A
XM_024453976.1:c.981+82G>A	XP_024309744.1:n.981+82G>A
XM_024453977.1:c.981+82G>A	XP_024309745.1:n.981+82G>A
XM_024453978.1:c.981+82G>A	XP_024309746.1:n.981+82G>A
NM_000812.4:c.1080+82G>A MANE Select	NP_000803.2:n.1080+82G>A