Canonical Allele Identifier: CA356811956
Gene: GABRB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.47408901G>T (hg19) chr4:g.47406884G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47406884G>T , CM000666.2:g.47406884G>T GRCh38
NC_000004.11:g.47408901G>T , CM000666.1:g.47408901G>T GRCh37
NC_000004.10:g.47103658G>T NCBI36
NG_051831.1:g.380607G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.1038G>T MANE Select ENSP00000295454.3:p.Gln346His
ENST00000295454.7:c.1038G>T ENSP00000295454.3:p.Gln346His
NM_000812.3:c.1038G>T NP_000803.2:p.Gln346His
XM_011513678.1:c.1017G>T XP_011511980.1:p.Gln339His
XM_017007985.1:c.387G>T XP_016863474.1:p.Gln129His
XM_024453976.1:c.939G>T XP_024309744.1:p.Gln313His
XM_024453977.1:c.939G>T XP_024309745.1:p.Gln313His
XM_024453978.1:c.939G>T XP_024309746.1:p.Gln313His
NM_000812.4:c.1038G>T MANE Select NP_000803.2:p.Gln346His
Search 100 bp 5'
Search 100 bp 3'