Canonical Allele Identifier: CA414843381

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869395T>A (hg19) ; chrY:g.19707509T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707509T>A , CM000686.2:g.19707509T>A	GRCh38
NC_000024.9:g.21869395T>A , CM000686.1:g.21869395T>A	GRCh37
NC_000024.8:g.20328783T>A	NCBI36
NG_032920.1:g.42431A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3637A>T MANE Select	ENSP00000322408.4:p.Ser1213Cys
ENST00000317961.8:c.3637A>T	ENSP00000322408.4:p.Ser1213Cys
ENST00000382806.6:c.3466A>T	ENSP00000372256.2:p.Ser1156Cys
ENST00000415360.1:c.553A>T	ENSP00000389433.1:p.Ser185Cys
ENST00000440077.5:c.3514A>T	ENSP00000398543.1:p.Ser1172Cys
ENST00000469599.6:n.2235A>T
ENST00000492117.1:n.3529A>T
ENST00000541639.5:c.3730A>T	ENSP00000444293.1:p.Ser1244Cys
NM_001146705.1:c.3730A>T	NP_001140177.1:p.Ser1244Cys
NM_001146706.1:c.3466A>T	NP_001140178.1:p.Ser1156Cys
NM_004653.4:c.3637A>T	NP_004644.2:p.Ser1213Cys
XM_005262560.1:c.3502A>T	XP_005262617.1:p.Ser1168Cys
XM_005262561.1:c.3406A>T	XP_005262618.1:p.Ser1136Cys
XM_011531468.1:c.3559A>T	XP_011529770.1:p.Ser1187Cys
XR_244571.2:n.3925A>T
XR_430568.2:n.4259A>T
XM_005262560.3:c.3502A>T	XP_005262617.1:p.Ser1168Cys
XM_005262561.3:c.3406A>T	XP_005262618.1:p.Ser1136Cys
XM_011531468.3:c.3559A>T	XP_011529770.1:p.Ser1187Cys
XM_024452495.1:c.1627A>T	XP_024308263.1:p.Ser543Cys
XM_024452496.1:c.1393A>T	XP_024308264.1:p.Ser465Cys
XR_001756009.2:n.4375A>T
XR_001756010.2:n.4375A>T
XR_001756011.2:n.4240A>T
XR_001756012.2:n.4388A>T
XR_001756013.2:n.3706A>T
XR_002958832.1:n.3807A>T
XR_002958834.1:n.4031A>T
XR_002958835.1:n.3914A>T
XR_002958836.1:n.4597A>T
XR_002958837.1:n.4404A>T
XR_244571.4:n.3924A>T
XR_430568.4:n.4258A>T
NM_001146706.2:c.3466A>T	NP_001140178.1:p.Ser1156Cys
NM_004653.5:c.3637A>T MANE Select	NP_004644.2:p.Ser1213Cys
NM_001146705.2:c.3730A>T	NP_001140177.1:p.Ser1244Cys