Canonical Allele Identifier: CA406777078

Gene: LHB

Linked Data

• gnomAD v4: 19-49016120-T-G
• MyVariant Identifiers: chr19:g.49519377T>G (hg19) ; chr19:g.49016120T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49016120T>G , CM000681.2:g.49016120T>G	GRCh38
NC_000019.9:g.49519377T>G , CM000681.1:g.49519377T>G	GRCh37
NC_000019.8:g.54211189T>G	NCBI36
NG_011464.1:g.5971A>C
NG_033041.1:g.27222T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000649238.3:c.374A>C MANE Select	ENSP00000497294.2:p.Asp125Ala
ENST00000649284.1:n.465A>C
ENST00000221421.6:c.374A>C	ENSP00000221421.1:p.Asp125Ala
ENST00000391869.4:c.368A>C	ENSP00000375742.4:p.Asp123Ala
NM_000894.2:c.374A>C	NP_000885.1:p.Asp125Ala
XM_011526975.1:c.422A>C	XP_011525277.1:p.Asp141Ala
NM_000894.3:c.374A>C MANE Select	NP_000885.1:p.Asp125Ala