Canonical Allele Identifier: CA2514786387

Gene: KDM5D

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706774C>A , CM000686.2:g.19706774C>A	GRCh38
NC_000024.9:g.21868660C>A , CM000686.1:g.21868660C>A	GRCh37
NC_000024.8:g.20328048C>A	NCBI36
NG_032920.1:g.43166G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4069+20G>T MANE Select	ENSP00000322408.4:n.4069+20G>T
ENST00000317961.8:c.4069+20G>T	ENSP00000322408.4:n.4069+20G>T
ENST00000382806.6:c.3898+20G>T	ENSP00000372256.2:n.3898+20G>T
ENST00000440077.5:c.3946+20G>T	ENSP00000398543.1:n.3946+20G>T
ENST00000469599.6:n.2687G>T
ENST00000492117.1:n.3981G>T
ENST00000541639.5:c.4162+20G>T	ENSP00000444293.1:n.4162+20G>T
NM_001146705.1:c.4162+20G>T	NP_001140177.1:n.4162+20G>T
NM_001146706.1:c.3898+20G>T	NP_001140178.1:n.3898+20G>T
NM_004653.4:c.4069+20G>T	NP_004644.2:n.4069+20G>T
XM_005262560.1:c.3934+20G>T	XP_005262617.1:n.3934+20G>T
XM_005262561.1:c.3838+20G>T	XP_005262618.1:n.3838+20G>T
XM_011531468.1:c.3991+20G>T	XP_011529770.1:n.3991+20G>T
XR_244571.2:n.4357+20G>T
XR_430568.2:n.4711G>T
XM_005262560.3:c.3934+20G>T	XP_005262617.1:n.3934+20G>T
XM_005262561.3:c.3838+20G>T	XP_005262618.1:n.3838+20G>T
XM_011531468.3:c.3991+20G>T	XP_011529770.1:n.3991+20G>T
XM_024452495.1:c.2059+20G>T	XP_024308263.1:n.2059+20G>T
XM_024452496.1:c.1825+20G>T	XP_024308264.1:n.1825+20G>T
XR_001756009.2:n.4807+20G>T
XR_001756010.2:n.4807+20G>T
XR_001756011.2:n.4672+20G>T
XR_001756012.2:n.4820+20G>T
XR_001756013.2:n.4138+20G>T
XR_002958832.1:n.4259G>T
XR_002958834.1:n.4463+20G>T
XR_002958835.1:n.4346+20G>T
XR_002958836.1:n.5029+20G>T
XR_002958837.1:n.4836+20G>T
XR_244571.4:n.4356+20G>T
XR_430568.4:n.4710G>T
NM_001146706.2:c.3898+20G>T	NP_001140178.1:n.3898+20G>T
NM_004653.5:c.4069+20G>T MANE Select	NP_004644.2:n.4069+20G>T
NM_001146705.2:c.4162+20G>T	NP_001140177.1:n.4162+20G>T