Canonical Allele Identifier: CA406776246

Gene: LHB

Linked Data

• dbSNP Id: rs2039545228
• MyVariant Identifiers: chr19:g.49519333A>C (hg19) ; chr19:g.49016076A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49016076A>C , CM000681.2:g.49016076A>C	GRCh38
NC_000019.9:g.49519333A>C , CM000681.1:g.49519333A>C	GRCh37
NC_000019.8:g.54211145A>C	NCBI36
NG_011464.1:g.6015T>G
NG_033041.1:g.27178A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649238.3:c.418T>G MANE Select	ENSP00000497294.2:p.Phe140Val
ENST00000649284.1:n.509T>G
ENST00000221421.6:c.418T>G	ENSP00000221421.1:p.Phe140Val
ENST00000391869.4:c.408T>G	ENSP00000375742.4:p.Ser136=
NM_000894.2:c.418T>G	NP_000885.1:p.Phe140Val
XM_011526975.1:c.466T>G	XP_011525277.1:p.Phe156Val
NM_000894.3:c.418T>G MANE Select	NP_000885.1:p.Phe140Val