Canonical Allele Identifier: CA406777085

Gene: LHB

Linked Data

• gnomAD v4: 19-49016122-T-A
• MyVariant Identifiers: chr19:g.49519379T>A (hg19) ; chr19:g.49016122T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000649238.3:c.372A>T MANE Select	ENSP00000497294.2:p.Lys124Asn
ENST00000649284.1:n.463A>T
ENST00000221421.6:c.372A>T	ENSP00000221421.1:p.Lys124Asn
ENST00000391869.4:c.366A>T	ENSP00000375742.4:p.Lys122Asn
NM_000894.2:c.372A>T	NP_000885.1:p.Lys124Asn
XM_011526975.1:c.420A>T	XP_011525277.1:p.Lys140Asn
NM_000894.3:c.372A>T MANE Select	NP_000885.1:p.Lys124Asn