Canonical Allele Identifier: CA508277100

Gene: LHB

Linked Data

• dbSNP Id: rs781649328
• gnomAD v4: 19-49016101-G-A
• MyVariant Identifiers: chr19:g.49519358G>A (hg19) ; chr19:g.49016101G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649238.3:c.393C>T MANE Select	ENSP00000497294.2:p.Asp131=
ENST00000649284.1:n.484C>T
ENST00000221421.6:c.393C>T	ENSP00000221421.1:p.Asp131=
ENST00000391869.4:c.387C>T	ENSP00000375742.4:p.Asp129=
NM_000894.2:c.393C>T	NP_000885.1:p.Asp131=
XM_011526975.1:c.441C>T	XP_011525277.1:p.Asp147=
NM_000894.3:c.393C>T MANE Select	NP_000885.1:p.Asp131=