Canonical Allele Identifier: CA414843622

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869457C>T (hg19) ; chrY:g.19707571C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707571C>T , CM000686.2:g.19707571C>T	GRCh38
NC_000024.9:g.21869457C>T , CM000686.1:g.21869457C>T	GRCh37
NC_000024.8:g.20328845C>T	NCBI36
NG_032920.1:g.42369G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3575G>A MANE Select	ENSP00000322408.4:p.Cys1192Tyr
ENST00000317961.8:c.3575G>A	ENSP00000322408.4:p.Cys1192Tyr
ENST00000382806.6:c.3404G>A	ENSP00000372256.2:p.Cys1135Tyr
ENST00000415360.1:c.491G>A	ENSP00000389433.1:p.Cys164Tyr
ENST00000440077.5:c.3452G>A	ENSP00000398543.1:p.Cys1151Tyr
ENST00000469599.6:n.2173G>A
ENST00000492117.1:n.3467G>A
ENST00000541639.5:c.3668G>A	ENSP00000444293.1:p.Cys1223Tyr
NM_001146705.1:c.3668G>A	NP_001140177.1:p.Cys1223Tyr
NM_001146706.1:c.3404G>A	NP_001140178.1:p.Cys1135Tyr
NM_004653.4:c.3575G>A	NP_004644.2:p.Cys1192Tyr
XM_005262560.1:c.3440G>A	XP_005262617.1:p.Cys1147Tyr
XM_005262561.1:c.3344G>A	XP_005262618.1:p.Cys1115Tyr
XM_011531468.1:c.3497G>A	XP_011529770.1:p.Cys1166Tyr
XR_244571.2:n.3863G>A
XR_430568.2:n.4197G>A
XM_005262560.3:c.3440G>A	XP_005262617.1:p.Cys1147Tyr
XM_005262561.3:c.3344G>A	XP_005262618.1:p.Cys1115Tyr
XM_011531468.3:c.3497G>A	XP_011529770.1:p.Cys1166Tyr
XM_024452495.1:c.1565G>A	XP_024308263.1:p.Cys522Tyr
XM_024452496.1:c.1331G>A	XP_024308264.1:p.Cys444Tyr
XR_001756009.2:n.4313G>A
XR_001756010.2:n.4313G>A
XR_001756011.2:n.4178G>A
XR_001756012.2:n.4326G>A
XR_001756013.2:n.3644G>A
XR_002958832.1:n.3745G>A
XR_002958834.1:n.3969G>A
XR_002958835.1:n.3852G>A
XR_002958836.1:n.4535G>A
XR_002958837.1:n.4342G>A
XR_244571.4:n.3862G>A
XR_430568.4:n.4196G>A
NM_001146706.2:c.3404G>A	NP_001140178.1:p.Cys1135Tyr
NM_004653.5:c.3575G>A MANE Select	NP_004644.2:p.Cys1192Tyr
NM_001146705.2:c.3668G>A	NP_001140177.1:p.Cys1223Tyr