Canonical Allele Identifier: CA2766253159

Gene: KDM5D

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707862C>A , CM000686.2:g.19707862C>A	GRCh38
NC_000024.9:g.21869748C>A , CM000686.1:g.21869748C>A	GRCh37
NC_000024.8:g.20329136C>A	NCBI36
NG_032920.1:g.42078G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3399+72G>T MANE Select	ENSP00000322408.4:n.3399+72G>T
ENST00000317961.8:c.3399+72G>T	ENSP00000322408.4:n.3399+72G>T
ENST00000382806.6:c.3228+72G>T	ENSP00000372256.2:n.3228+72G>T
ENST00000415360.1:c.315+72G>T	ENSP00000389433.1:n.315+72G>T
ENST00000440077.5:c.3276+72G>T	ENSP00000398543.1:n.3276+72G>T
ENST00000469599.6:n.1997+72G>T
ENST00000492117.1:n.3291+72G>T
ENST00000541639.5:c.3492+72G>T	ENSP00000444293.1:n.3492+72G>T
NM_001146705.1:c.3492+72G>T	NP_001140177.1:n.3492+72G>T
NM_001146706.1:c.3228+72G>T	NP_001140178.1:n.3228+72G>T
NM_004653.4:c.3399+72G>T	NP_004644.2:n.3399+72G>T
XM_005262560.1:c.3264+72G>T	XP_005262617.1:n.3264+72G>T
XM_005262561.1:c.3168+72G>T	XP_005262618.1:n.3168+72G>T
XM_011531468.1:c.3321+72G>T	XP_011529770.1:n.3321+72G>T
XR_244571.2:n.3687+72G>T
XR_430568.2:n.4021+72G>T
XM_005262560.3:c.3264+72G>T	XP_005262617.1:n.3264+72G>T
XM_005262561.3:c.3168+72G>T	XP_005262618.1:n.3168+72G>T
XM_011531468.3:c.3321+72G>T	XP_011529770.1:n.3321+72G>T
XM_024452495.1:c.1389+72G>T	XP_024308263.1:n.1389+72G>T
XM_024452496.1:c.1155+72G>T	XP_024308264.1:n.1155+72G>T
XR_001756009.2:n.4137+72G>T
XR_001756010.2:n.4137+72G>T
XR_001756011.2:n.4002+72G>T
XR_001756012.2:n.4150+72G>T
XR_001756013.2:n.3468+72G>T
XR_002958832.1:n.3569+72G>T
XR_002958834.1:n.3793+72G>T
XR_002958835.1:n.3676+72G>T
XR_002958836.1:n.4359+72G>T
XR_002958837.1:n.4166+72G>T
XR_244571.4:n.3686+72G>T
XR_430568.4:n.4020+72G>T
NM_001146706.2:c.3228+72G>T	NP_001140178.1:n.3228+72G>T
NM_004653.5:c.3399+72G>T MANE Select	NP_004644.2:n.3399+72G>T
NM_001146705.2:c.3492+72G>T	NP_001140177.1:n.3492+72G>T