LDH info

Canonical Allele Identifier: CA225424
Gene: MAPT HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 14253
dbSNP Id: rs63750756

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.46010324T>G , CM000679.2:g.46010324T>G GRCh38
NC_000017.10:g.44087690T>G , CM000679.1:g.44087690T>G GRCh37
NC_000017.9:g.41443527T>G NCBI36
NG_007398.1:g.120904T>G
NG_007398.2:g.120862T>G

Transcript Alleles

HGVS Amino-acid change
NM_001123066.3:c.1842T>G VV NP_001116538.2:p.Asn614Lys
NM_001123067.3:c.750T>G VV NP_001116539.1:p.Asn250Lys
NM_001203251.1:c.736-3919T>G VV NP_001190180.1:p.=
NM_001203252.1:c.823-3919T>G VV NP_001190181.1:p.=
NM_005910.5:c.837T>G VV NP_005901.2:p.Asn279Lys
NM_016834.4:c.663T>G VV NP_058518.1:p.Asn221Lys
NM_016835.4:c.1788T>G VV NP_058519.3:p.Asn596Lys
NM_016841.4:c.649-3919T>G VV NP_058525.1:p.=
XM_005257362.3:c.2100T>G XP_005257419.1:p.Asn700Lys
XM_005257364.3:c.2013T>G XP_005257421.1:p.Asn671Lys
XM_005257365.3:c.2086-3919T>G XP_005257422.1:p.=
XM_005257366.2:c.1926T>G XP_005257423.1:p.Asn642Lys
XM_005257367.3:c.1902T>G XP_005257424.1:p.Asn634Lys
XM_005257368.3:c.1888-3919T>G XP_005257425.1:p.=
XM_005257369.3:c.1035T>G XP_005257426.1:p.Asn345Lys
XM_005257370.3:c.948T>G XP_005257427.1:p.Asn316Lys
XM_005257371.3:c.861T>G XP_005257428.1:p.Asn287Lys
XM_005257362.4:c.2100T>G XP_005257419.1:p.Asn700Lys
XM_005257364.4:c.2013T>G XP_005257421.1:p.Asn671Lys
XM_005257365.4:c.2086-3919T>G XP_005257422.1:p.=
XM_005257366.3:c.1926T>G XP_005257423.1:p.Asn642Lys
XM_005257367.4:c.1902T>G XP_005257424.1:p.Asn634Lys
XM_005257368.4:c.1888-3919T>G XP_005257425.1:p.=
XM_005257369.4:c.1035T>G XP_005257426.1:p.Asn345Lys
XM_005257370.4:c.948T>G XP_005257427.1:p.Asn316Lys
XM_005257371.4:c.861T>G XP_005257428.1:p.Asn287Lys
NM_001203251.2:c.736-3919T>G VV NP_001190180.1:p.=
NM_001377265.1:c.2013T>G VV NP_001364194.1:p.Asn671Lys
NM_001377266.1:c.1801-3919T>G VV NP_001364195.1:p.=
NM_001377267.1:c.736-3919T>G VV NP_001364196.1:p.=
NM_001377268.1:c.649-3919T>G VV NP_001364197.1:p.=
NM_016834.5:c.663T>G VV NP_058518.1:p.Asn221Lys
NM_016841.5:c.649-3919T>G VV NP_058525.1:p.=
NR_165166.1:n.747-3919T>G
ENST00000262410.9:c.1788T>G ENSP00000262410.5:p.Asn596Lys
ENST00000334239.12:c.649-3919T>G ENSP00000334886.8:p.=
ENST00000340799.9:c.750T>G ENSP00000340438.5:p.Asn250Lys
ENST00000344290.9:c.1842T>G ENSP00000340820.5:p.Asn614Lys
ENST00000351559.9:c.837T>G ENSP00000303214.7:p.Asn279Lys
ENST00000415613.6:n.1842T>G ENSP00000410838.2:p.Asn614Lys
ENST00000420682.6:n.750T>G ENSP00000413056.2:p.Asn250Lys
ENST00000431008.7:n.823-3919T>G ENSP00000389250.3:p.=
ENST00000446361.7:c.663T>G ENSP00000408975.3:p.Asn221Lys
ENST00000535772.5:c.823-3919T>G ENSP00000443028.1:p.=
ENST00000570299.5:n.777-8294T>G
ENST00000571987.5:n.1788T>G ENSP00000458742.1:p.Asn596Lys
ENST00000574436.5:n.837T>G ENSP00000460965.1:p.Asn279Lys
ENST00000576518.1:n.6108-3919T>G