LDH info

Canonical Allele Identifier: CA004617
Gene: TSC1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 48758
ClinVar RCV Id: RCV000042005
dbSNP Id: rs118203511

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132907331G>A , CM000671.2:g.132907331G>A GRCh38
NC_000009.11:g.135782718G>A , CM000671.1:g.135782718G>A GRCh37
NC_000009.10:g.134772539G>A NCBI36
NG_012386.1:g.42303C>T , LRG_486:g.42303C>T

Transcript Alleles

HGVS Amino-acid change
NM_000368.4:c.1303C>T , LRG_486t1:c.1303C>T NP_000359.1:p.Gln435Ter
NM_001162426.1:c.1300C>T VV NP_001155898.1:p.Gln434Ter
NM_001162427.1:c.1150C>T VV NP_001155899.1:p.Gln384Ter
XM_005272211.1:c.1303C>T XP_005272268.1:p.Gln435Ter
XM_006717271.1:c.1303C>T XP_006717334.1:p.Gln435Ter
XM_006717272.2:c.1303C>T XP_006717335.1:p.Gln435Ter
XM_011518979.1:c.1303C>T XP_011517281.1:p.Gln435Ter
NM_001362177.1:c.940C>T VV NP_001349106.1:p.Gln314Ter
XM_011518979.2:c.1303C>T XP_011517281.1:p.Gln435Ter
XM_017015096.1:c.1303C>T XP_016870585.1:p.Gln435Ter
XM_017015097.1:c.1303C>T XP_016870586.1:p.Gln435Ter
XM_017015098.1:c.1300C>T XP_016870587.1:p.Gln434Ter
XM_017015100.1:c.940C>T XP_016870589.1:p.Gln314Ter
XM_017015101.1:c.937C>T XP_016870590.1:p.Gln313Ter
NM_000368.5:c.1303C>T VV NP_000359.1:p.Gln435Ter
NM_001162426.2:c.1300C>T VV NP_001155898.1:p.Gln434Ter
NM_001162427.2:c.1150C>T VV NP_001155899.1:p.Gln384Ter
NM_001362177.2:c.940C>T VV NP_001349106.1:p.Gln314Ter
ENST00000298552.7:c.1303C>T ENSP00000298552.3:p.Gln435Ter
ENST00000440111.6:c.1303C>T ENSP00000394524.2:p.Gln435Ter
ENST00000545250.5:c.1150C>T ENSP00000444017.1:p.Gln384Ter