Canonical Allele Identifier: CA9564277
Gene: LHB HGNC NCBI

Linked Data

ClinVar Variation Id: 1980162
ClinVar RCV Id: RCV002780178
dbSNP Id: rs138913384
ExAC: 19:49519412 G / A
gnomAD v2: 19-49519412-G-A
gnomAD v3: 19-49016155-G-A
gnomAD v4: 19-49016155-G-A
MyVariant Identifiers: chr19:g.49519412G>A (hg19) chr19:g.49016155G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.49016155G>A , CM000681.2:g.49016155G>A GRCh38
NC_000019.9:g.49519412G>A , CM000681.1:g.49519412G>A GRCh37
NC_000019.8:g.54211224G>A NCBI36
NG_011464.1:g.5936C>T
NG_033041.1:g.27257G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649238.3:c.339C>T MANE Select ENSP00000497294.2:p.Cys113=
ENST00000649284.1:n.430C>T
ENST00000221421.6:c.339C>T ENSP00000221421.1:p.Cys113=
ENST00000391869.4:c.333C>T ENSP00000375742.4:p.Cys111=
NM_000894.2:c.339C>T NP_000885.1:p.Cys113=
XM_011526975.1:c.387C>T XP_011525277.1:p.Cys129=
NM_000894.3:c.339C>T MANE Select NP_000885.1:p.Cys113=
Search 100 bp 5'
Search 100 bp 3'