Canonical Allele Identifier: CA2766252880
Gene: KDM5D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706769C>A , CM000686.2:g.19706769C>A GRCh38
NC_000024.9:g.21868655C>A , CM000686.1:g.21868655C>A GRCh37
NC_000024.8:g.20328043C>A NCBI36
NG_032920.1:g.43171G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4069+25G>T MANE Select ENSP00000322408.4:n.4069+25G>T
ENST00000317961.8:c.4069+25G>T ENSP00000322408.4:n.4069+25G>T
ENST00000382806.6:c.3898+25G>T ENSP00000372256.2:n.3898+25G>T
ENST00000440077.5:c.3946+25G>T ENSP00000398543.1:n.3946+25G>T
ENST00000469599.6:n.2692G>T
ENST00000492117.1:n.3986G>T
ENST00000541639.5:c.4162+25G>T ENSP00000444293.1:n.4162+25G>T
NM_001146705.1:c.4162+25G>T NP_001140177.1:n.4162+25G>T
NM_001146706.1:c.3898+25G>T NP_001140178.1:n.3898+25G>T
NM_004653.4:c.4069+25G>T NP_004644.2:n.4069+25G>T
XM_005262560.1:c.3934+25G>T XP_005262617.1:n.3934+25G>T
XM_005262561.1:c.3838+25G>T XP_005262618.1:n.3838+25G>T
XM_011531468.1:c.3991+25G>T XP_011529770.1:n.3991+25G>T
XR_244571.2:n.4357+25G>T
XR_430568.2:n.4716G>T
XM_005262560.3:c.3934+25G>T XP_005262617.1:n.3934+25G>T
XM_005262561.3:c.3838+25G>T XP_005262618.1:n.3838+25G>T
XM_011531468.3:c.3991+25G>T XP_011529770.1:n.3991+25G>T
XM_024452495.1:c.2059+25G>T XP_024308263.1:n.2059+25G>T
XM_024452496.1:c.1825+25G>T XP_024308264.1:n.1825+25G>T
XR_001756009.2:n.4807+25G>T
XR_001756010.2:n.4807+25G>T
XR_001756011.2:n.4672+25G>T
XR_001756012.2:n.4820+25G>T
XR_001756013.2:n.4138+25G>T
XR_002958832.1:n.4264G>T
XR_002958834.1:n.4463+25G>T
XR_002958835.1:n.4346+25G>T
XR_002958836.1:n.5029+25G>T
XR_002958837.1:n.4836+25G>T
XR_244571.4:n.4356+25G>T
XR_430568.4:n.4715G>T
NM_001146706.2:c.3898+25G>T NP_001140178.1:n.3898+25G>T
NM_004653.5:c.4069+25G>T MANE Select NP_004644.2:n.4069+25G>T
NM_001146705.2:c.4162+25G>T NP_001140177.1:n.4162+25G>T