Canonical Allele Identifier: CA414843519

Gene: KDM5D

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3599G>T MANE Select	ENSP00000322408.4:p.Cys1200Phe
ENST00000317961.8:c.3599G>T	ENSP00000322408.4:p.Cys1200Phe
ENST00000382806.6:c.3428G>T	ENSP00000372256.2:p.Cys1143Phe
ENST00000415360.1:c.515G>T	ENSP00000389433.1:p.Cys172Phe
ENST00000440077.5:c.3476G>T	ENSP00000398543.1:p.Cys1159Phe
ENST00000469599.6:n.2197G>T
ENST00000492117.1:n.3491G>T
ENST00000541639.5:c.3692G>T	ENSP00000444293.1:p.Cys1231Phe
NM_001146705.1:c.3692G>T	NP_001140177.1:p.Cys1231Phe
NM_001146706.1:c.3428G>T	NP_001140178.1:p.Cys1143Phe
NM_004653.4:c.3599G>T	NP_004644.2:p.Cys1200Phe
XM_005262560.1:c.3464G>T	XP_005262617.1:p.Cys1155Phe
XM_005262561.1:c.3368G>T	XP_005262618.1:p.Cys1123Phe
XM_011531468.1:c.3521G>T	XP_011529770.1:p.Cys1174Phe
XR_244571.2:n.3887G>T
XR_430568.2:n.4221G>T
XM_005262560.3:c.3464G>T	XP_005262617.1:p.Cys1155Phe
XM_005262561.3:c.3368G>T	XP_005262618.1:p.Cys1123Phe
XM_011531468.3:c.3521G>T	XP_011529770.1:p.Cys1174Phe
XM_024452495.1:c.1589G>T	XP_024308263.1:p.Cys530Phe
XM_024452496.1:c.1355G>T	XP_024308264.1:p.Cys452Phe
XR_001756009.2:n.4337G>T
XR_001756010.2:n.4337G>T
XR_001756011.2:n.4202G>T
XR_001756012.2:n.4350G>T
XR_001756013.2:n.3668G>T
XR_002958832.1:n.3769G>T
XR_002958834.1:n.3993G>T
XR_002958835.1:n.3876G>T
XR_002958836.1:n.4559G>T
XR_002958837.1:n.4366G>T
XR_244571.4:n.3886G>T
XR_430568.4:n.4220G>T
NM_001146706.2:c.3428G>T	NP_001140178.1:p.Cys1143Phe
NM_004653.5:c.3599G>T MANE Select	NP_004644.2:p.Cys1200Phe
NM_001146705.2:c.3692G>T	NP_001140177.1:p.Cys1231Phe