Canonical Allele Identifier: CA508277222
Gene: LHB HGNC NCBI

Linked Data

dbSNP Id: rs2039546185
gnomAD v4: 19-49016122-T-C
MyVariant Identifiers: chr19:g.49519379T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.49016122T>C , CM000681.2:g.49016122T>C GRCh38
NC_000019.9:g.49519379T>C , CM000681.1:g.49519379T>C GRCh37
NC_000019.8:g.54211191T>C NCBI36
NG_011464.1:g.5969A>G
NG_033041.1:g.27224T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000649238.3:c.372A>G MANE Select ENSP00000497294.2:p.Lys124=
ENST00000649284.1:n.463A>G
ENST00000221421.6:c.372A>G ENSP00000221421.1:p.Lys124=
ENST00000391869.4:c.366A>G ENSP00000375742.4:p.Lys122=
NM_000894.2:c.372A>G NP_000885.1:p.Lys124=
XM_011526975.1:c.420A>G XP_011525277.1:p.Lys140=
NM_000894.3:c.372A>G MANE Select NP_000885.1:p.Lys124=
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