Canonical Allele Identifier: CA414843522

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869434A>T (hg19) ; chrY:g.19707548A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707548A>T , CM000686.2:g.19707548A>T	GRCh38
NC_000024.9:g.21869434A>T , CM000686.1:g.21869434A>T	GRCh37
NC_000024.8:g.20328822A>T	NCBI36
NG_032920.1:g.42392T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3598T>A MANE Select	ENSP00000322408.4:p.Cys1200Ser
ENST00000317961.8:c.3598T>A	ENSP00000322408.4:p.Cys1200Ser
ENST00000382806.6:c.3427T>A	ENSP00000372256.2:p.Cys1143Ser
ENST00000415360.1:c.514T>A	ENSP00000389433.1:p.Cys172Ser
ENST00000440077.5:c.3475T>A	ENSP00000398543.1:p.Cys1159Ser
ENST00000469599.6:n.2196T>A
ENST00000492117.1:n.3490T>A
ENST00000541639.5:c.3691T>A	ENSP00000444293.1:p.Cys1231Ser
NM_001146705.1:c.3691T>A	NP_001140177.1:p.Cys1231Ser
NM_001146706.1:c.3427T>A	NP_001140178.1:p.Cys1143Ser
NM_004653.4:c.3598T>A	NP_004644.2:p.Cys1200Ser
XM_005262560.1:c.3463T>A	XP_005262617.1:p.Cys1155Ser
XM_005262561.1:c.3367T>A	XP_005262618.1:p.Cys1123Ser
XM_011531468.1:c.3520T>A	XP_011529770.1:p.Cys1174Ser
XR_244571.2:n.3886T>A
XR_430568.2:n.4220T>A
XM_005262560.3:c.3463T>A	XP_005262617.1:p.Cys1155Ser
XM_005262561.3:c.3367T>A	XP_005262618.1:p.Cys1123Ser
XM_011531468.3:c.3520T>A	XP_011529770.1:p.Cys1174Ser
XM_024452495.1:c.1588T>A	XP_024308263.1:p.Cys530Ser
XM_024452496.1:c.1354T>A	XP_024308264.1:p.Cys452Ser
XR_001756009.2:n.4336T>A
XR_001756010.2:n.4336T>A
XR_001756011.2:n.4201T>A
XR_001756012.2:n.4349T>A
XR_001756013.2:n.3667T>A
XR_002958832.1:n.3768T>A
XR_002958834.1:n.3992T>A
XR_002958835.1:n.3875T>A
XR_002958836.1:n.4558T>A
XR_002958837.1:n.4365T>A
XR_244571.4:n.3885T>A
XR_430568.4:n.4219T>A
NM_001146706.2:c.3427T>A	NP_001140178.1:p.Cys1143Ser
NM_004653.5:c.3598T>A MANE Select	NP_004644.2:p.Cys1200Ser
NM_001146705.2:c.3691T>A	NP_001140177.1:p.Cys1231Ser