Canonical Allele Identifier: CA356812002
Gene: GABRB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.47408920A>T (hg19) chr4:g.47406903A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47406903A>T , CM000666.2:g.47406903A>T GRCh38
NC_000004.11:g.47408920A>T , CM000666.1:g.47408920A>T GRCh37
NC_000004.10:g.47103677A>T NCBI36
NG_051831.1:g.380626A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.1057A>T MANE Select ENSP00000295454.3:p.Lys353Ter
ENST00000295454.7:c.1057A>T ENSP00000295454.3:p.Lys353Ter
NM_000812.3:c.1057A>T NP_000803.2:p.Lys353Ter
XM_011513678.1:c.1036A>T XP_011511980.1:p.Lys346Ter
XM_017007985.1:c.406A>T XP_016863474.1:p.Lys136Ter
XM_024453976.1:c.958A>T XP_024309744.1:p.Lys320Ter
XM_024453977.1:c.958A>T XP_024309745.1:p.Lys320Ter
XM_024453978.1:c.958A>T XP_024309746.1:p.Lys320Ter
NM_000812.4:c.1057A>T MANE Select NP_000803.2:p.Lys353Ter
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