Canonical Allele Identifier: CA9564295
Gene: LHB HGNC NCBI

Linked Data

dbSNP Id: rs138562573
ExAC: 19:49519471 G / A
gnomAD v2: 19-49519471-G-A
gnomAD v3: 19-49016214-G-A
gnomAD v4: 19-49016214-G-A
MyVariant Identifiers: chr19:g.49519471G>A (hg19) chr19:g.49016214G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.49016214G>A , CM000681.2:g.49016214G>A GRCh38
NC_000019.9:g.49519471G>A , CM000681.1:g.49519471G>A GRCh37
NC_000019.8:g.54211283G>A NCBI36
NG_011464.1:g.5877C>T
NG_033041.1:g.27316G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649238.3:c.280C>T MANE Select ENSP00000497294.2:p.Arg94Cys
ENST00000649284.1:n.371C>T
ENST00000221421.6:c.280C>T ENSP00000221421.1:p.Arg94Cys
ENST00000391869.4:c.274C>T ENSP00000375742.4:p.Arg92Cys
NM_000894.2:c.280C>T NP_000885.1:p.Arg94Cys
XM_011526975.1:c.328C>T XP_011525277.1:p.Arg110Cys
NM_000894.3:c.280C>T MANE Select NP_000885.1:p.Arg94Cys
Search 100 bp 5'
Search 100 bp 3'