Canonical Allele Identifier: CA2766253160

Gene: KDM5D

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707876C>T , CM000686.2:g.19707876C>T	GRCh38
NC_000024.9:g.21869762C>T , CM000686.1:g.21869762C>T	GRCh37
NC_000024.8:g.20329150C>T	NCBI36
NG_032920.1:g.42064G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3399+58G>A MANE Select	ENSP00000322408.4:n.3399+58G>A
ENST00000317961.8:c.3399+58G>A	ENSP00000322408.4:n.3399+58G>A
ENST00000382806.6:c.3228+58G>A	ENSP00000372256.2:n.3228+58G>A
ENST00000415360.1:c.315+58G>A	ENSP00000389433.1:n.315+58G>A
ENST00000440077.5:c.3276+58G>A	ENSP00000398543.1:n.3276+58G>A
ENST00000469599.6:n.1997+58G>A
ENST00000492117.1:n.3291+58G>A
ENST00000541639.5:c.3492+58G>A	ENSP00000444293.1:n.3492+58G>A
NM_001146705.1:c.3492+58G>A	NP_001140177.1:n.3492+58G>A
NM_001146706.1:c.3228+58G>A	NP_001140178.1:n.3228+58G>A
NM_004653.4:c.3399+58G>A	NP_004644.2:n.3399+58G>A
XM_005262560.1:c.3264+58G>A	XP_005262617.1:n.3264+58G>A
XM_005262561.1:c.3168+58G>A	XP_005262618.1:n.3168+58G>A
XM_011531468.1:c.3321+58G>A	XP_011529770.1:n.3321+58G>A
XR_244571.2:n.3687+58G>A
XR_430568.2:n.4021+58G>A
XM_005262560.3:c.3264+58G>A	XP_005262617.1:n.3264+58G>A
XM_005262561.3:c.3168+58G>A	XP_005262618.1:n.3168+58G>A
XM_011531468.3:c.3321+58G>A	XP_011529770.1:n.3321+58G>A
XM_024452495.1:c.1389+58G>A	XP_024308263.1:n.1389+58G>A
XM_024452496.1:c.1155+58G>A	XP_024308264.1:n.1155+58G>A
XR_001756009.2:n.4137+58G>A
XR_001756010.2:n.4137+58G>A
XR_001756011.2:n.4002+58G>A
XR_001756012.2:n.4150+58G>A
XR_001756013.2:n.3468+58G>A
XR_002958832.1:n.3569+58G>A
XR_002958834.1:n.3793+58G>A
XR_002958835.1:n.3676+58G>A
XR_002958836.1:n.4359+58G>A
XR_002958837.1:n.4166+58G>A
XR_244571.4:n.3686+58G>A
XR_430568.4:n.4020+58G>A
NM_001146706.2:c.3228+58G>A	NP_001140178.1:n.3228+58G>A
NM_004653.5:c.3399+58G>A MANE Select	NP_004644.2:n.3399+58G>A
NM_001146705.2:c.3492+58G>A	NP_001140177.1:n.3492+58G>A