Canonical Allele Identifier: CA9564262
Gene: LHB HGNC NCBI

Linked Data

dbSNP Id: rs781649328
ExAC: 19:49519358 G / T
gnomAD v2: 19-49519358-G-T
gnomAD v4: 19-49016101-G-T
MyVariant Identifiers: chr19:g.49519358G>T (hg19) chr19:g.49016101G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.49016101G>T , CM000681.2:g.49016101G>T GRCh38
NC_000019.9:g.49519358G>T , CM000681.1:g.49519358G>T GRCh37
NC_000019.8:g.54211170G>T NCBI36
NG_011464.1:g.5990C>A
NG_033041.1:g.27203G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000649238.3:c.393C>A MANE Select ENSP00000497294.2:p.Asp131Glu
ENST00000649284.1:n.484C>A
ENST00000221421.6:c.393C>A ENSP00000221421.1:p.Asp131Glu
ENST00000391869.4:c.387C>A ENSP00000375742.4:p.Asp129Glu
NM_000894.2:c.393C>A NP_000885.1:p.Asp131Glu
XM_011526975.1:c.441C>A XP_011525277.1:p.Asp147Glu
NM_000894.3:c.393C>A MANE Select NP_000885.1:p.Asp131Glu
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