Canonical Allele Identifier: CA883071632
Gene: LHB HGNC NCBI

Linked Data

dbSNP Id: rs1350087209
gnomAD v3: 19-49016112-AG-A
gnomAD v4: 19-49016112-AG-A
MyVariant Identifiers: chr19:g.49519370del (hg19) chr19:g.49016113del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.49016116del , CM000681.2:g.49016116del GRCh38
NC_000019.9:g.49519373del , CM000681.1:g.49519373del GRCh37
NC_000019.8:g.54211185del NCBI36
NG_011464.1:g.5978del
NG_033041.1:g.27218del

Transcript Alleles

HGVS Amino-acid change
ENST00000649238.3:c.381del MANE Select ENSP00000497294.2:p.Leu128Ter
ENST00000649284.1:n.472del
ENST00000221421.6:c.381del ENSP00000221421.1:p.Leu128Ter
ENST00000391869.4:c.375del ENSP00000375742.4:p.Leu126Ter
NM_000894.2:c.381del NP_000885.1:p.Leu128Ter
XM_011526975.1:c.429del XP_011525277.1:p.Leu144Ter
NM_000894.3:c.381del MANE Select NP_000885.1:p.Leu128Ter
Search 100 bp 5'
Search 100 bp 3'