Canonical Allele Identifier: CA9564264
Gene: LHB HGNC NCBI

Linked Data

dbSNP Id: rs575749991
ExAC: 19:49519382 G / A
gnomAD v2: 19-49519382-G-A
gnomAD v3: 19-49016125-G-A
gnomAD v4: 19-49016125-G-A
MyVariant Identifiers: chr19:g.49519382G>A (hg19) chr19:g.49016125G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.49016125G>A , CM000681.2:g.49016125G>A GRCh38
NC_000019.9:g.49519382G>A , CM000681.1:g.49519382G>A GRCh37
NC_000019.8:g.54211194G>A NCBI36
NG_011464.1:g.5966C>T
NG_033041.1:g.27227G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649238.3:c.369C>T MANE Select ENSP00000497294.2:p.Pro123=
ENST00000649284.1:n.460C>T
ENST00000221421.6:c.369C>T ENSP00000221421.1:p.Pro123=
ENST00000391869.4:c.363C>T ENSP00000375742.4:p.Pro121=
NM_000894.2:c.369C>T NP_000885.1:p.Pro123=
XM_011526975.1:c.417C>T XP_011525277.1:p.Pro139=
NM_000894.3:c.369C>T MANE Select NP_000885.1:p.Pro123=
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