LDH info

Canonical Allele Identifier: CA017662
Gene: LMNA HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 48048
dbSNP Id: rs4641

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156137743C>T , CM000663.2:g.156137743C>T GRCh38
NC_000001.10:g.156107534C>T , CM000663.1:g.156107534C>T GRCh37
NC_000001.9:g.154374158C>T NCBI36
NG_008692.2:g.60171C>T , LRG_254:g.60171C>T

Transcript Alleles

HGVS Amino-acid change
NM_001257374.2:c.1362C>T VV NP_001244303.1:p.His454=
NM_001282624.1:c.1455C>T VV NP_001269553.1:p.His485=
NM_001282625.1:c.1698C>T VV NP_001269554.1:p.His566=
NM_001282626.1:c.1698C>T VV NP_001269555.1:p.His566=
NM_005572.3:c.1698C>T , LRG_254t1:c.1698C>T NP_005563.1:p.His566=
NM_170707.3:c.1698C>T VV NP_733821.1:p.His566=
NM_170708.3:c.1608+511C>T VV NP_733822.1:p.=
XM_011509533.1:c.1362C>T XP_011507835.1:p.His454=
XM_011509534.1:c.1074C>T XP_011507836.1:p.His358=
XR_921781.1:n.1987C>T
XM_011509534.2:c.1074C>T XP_011507836.1:p.His358=
XR_921781.2:n.1985C>T
NM_170707.4:c.1698C>T VV MANE Preferred NP_733821.1:p.His566=
NM_001257374.3:c.1362C>T VV NP_001244303.1:p.His454=
NM_001282626.2:c.1698C>T VV NP_001269555.1:p.His566=
ENST00000347559.6:c.1608+511C>T ENSP00000292304.3:p.=
ENST00000361308.8:c.1443C>T ENSP00000355292.5:p.His481=
ENST00000368297.5:c.1455C>T ENSP00000357280.1:p.His485=
ENST00000368299.7:c.1698C>T ENSP00000357282.3:p.His566=
ENST00000368300.8:c.1698C>T ENSP00000357283.4:p.His566=
ENST00000368301.6:c.1698C>T ENSP00000357284.2:p.His566=
ENST00000448611.6:c.1362C>T ENSP00000395597.2:p.His454=
ENST00000473598.6:c.1401C>T ENSP00000421821.1:p.His467=
ENST00000496738.5:n.1167C>T
ENST00000498722.2:n.930C>T
ENST00000506981.1:n.282C>T
ENST00000508500.1:n.486+511C>T ENSP00000424977.1:p.=