Canonical Allele Identifier: CA414843518

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869433C>T (hg19) ; chrY:g.19707547C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707547C>T , CM000686.2:g.19707547C>T	GRCh38
NC_000024.9:g.21869433C>T , CM000686.1:g.21869433C>T	GRCh37
NC_000024.8:g.20328821C>T	NCBI36
NG_032920.1:g.42393G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3599G>A MANE Select	ENSP00000322408.4:p.Cys1200Tyr
ENST00000317961.8:c.3599G>A	ENSP00000322408.4:p.Cys1200Tyr
ENST00000382806.6:c.3428G>A	ENSP00000372256.2:p.Cys1143Tyr
ENST00000415360.1:c.515G>A	ENSP00000389433.1:p.Cys172Tyr
ENST00000440077.5:c.3476G>A	ENSP00000398543.1:p.Cys1159Tyr
ENST00000469599.6:n.2197G>A
ENST00000492117.1:n.3491G>A
ENST00000541639.5:c.3692G>A	ENSP00000444293.1:p.Cys1231Tyr
NM_001146705.1:c.3692G>A	NP_001140177.1:p.Cys1231Tyr
NM_001146706.1:c.3428G>A	NP_001140178.1:p.Cys1143Tyr
NM_004653.4:c.3599G>A	NP_004644.2:p.Cys1200Tyr
XM_005262560.1:c.3464G>A	XP_005262617.1:p.Cys1155Tyr
XM_005262561.1:c.3368G>A	XP_005262618.1:p.Cys1123Tyr
XM_011531468.1:c.3521G>A	XP_011529770.1:p.Cys1174Tyr
XR_244571.2:n.3887G>A
XR_430568.2:n.4221G>A
XM_005262560.3:c.3464G>A	XP_005262617.1:p.Cys1155Tyr
XM_005262561.3:c.3368G>A	XP_005262618.1:p.Cys1123Tyr
XM_011531468.3:c.3521G>A	XP_011529770.1:p.Cys1174Tyr
XM_024452495.1:c.1589G>A	XP_024308263.1:p.Cys530Tyr
XM_024452496.1:c.1355G>A	XP_024308264.1:p.Cys452Tyr
XR_001756009.2:n.4337G>A
XR_001756010.2:n.4337G>A
XR_001756011.2:n.4202G>A
XR_001756012.2:n.4350G>A
XR_001756013.2:n.3668G>A
XR_002958832.1:n.3769G>A
XR_002958834.1:n.3993G>A
XR_002958835.1:n.3876G>A
XR_002958836.1:n.4559G>A
XR_002958837.1:n.4366G>A
XR_244571.4:n.3886G>A
XR_430568.4:n.4220G>A
NM_001146706.2:c.3428G>A	NP_001140178.1:p.Cys1143Tyr
NM_004653.5:c.3599G>A MANE Select	NP_004644.2:p.Cys1200Tyr
NM_001146705.2:c.3692G>A	NP_001140177.1:p.Cys1231Tyr