Canonical Allele Identifier: CA414843193

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869340C>A (hg19) ; chrY:g.19707454C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707454C>A , CM000686.2:g.19707454C>A	GRCh38
NC_000024.9:g.21869340C>A , CM000686.1:g.21869340C>A	GRCh37
NC_000024.8:g.20328728C>A	NCBI36
NG_032920.1:g.42486G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3692G>T MANE Select	ENSP00000322408.4:p.Cys1231Phe
ENST00000317961.8:c.3692G>T	ENSP00000322408.4:p.Cys1231Phe
ENST00000382806.6:c.3521G>T	ENSP00000372256.2:p.Cys1174Phe
ENST00000415360.1:c.608G>T	ENSP00000389433.1:p.Cys203Phe
ENST00000440077.5:c.3569G>T	ENSP00000398543.1:p.Cys1190Phe
ENST00000469599.6:n.2290G>T
ENST00000492117.1:n.3584G>T
ENST00000541639.5:c.3785G>T	ENSP00000444293.1:p.Cys1262Phe
NM_001146705.1:c.3785G>T	NP_001140177.1:p.Cys1262Phe
NM_001146706.1:c.3521G>T	NP_001140178.1:p.Cys1174Phe
NM_004653.4:c.3692G>T	NP_004644.2:p.Cys1231Phe
XM_005262560.1:c.3557G>T	XP_005262617.1:p.Cys1186Phe
XM_005262561.1:c.3461G>T	XP_005262618.1:p.Cys1154Phe
XM_011531468.1:c.3614G>T	XP_011529770.1:p.Cys1205Phe
XR_244571.2:n.3980G>T
XR_430568.2:n.4314G>T
XM_005262560.3:c.3557G>T	XP_005262617.1:p.Cys1186Phe
XM_005262561.3:c.3461G>T	XP_005262618.1:p.Cys1154Phe
XM_011531468.3:c.3614G>T	XP_011529770.1:p.Cys1205Phe
XM_024452495.1:c.1682G>T	XP_024308263.1:p.Cys561Phe
XM_024452496.1:c.1448G>T	XP_024308264.1:p.Cys483Phe
XR_001756009.2:n.4430G>T
XR_001756010.2:n.4430G>T
XR_001756011.2:n.4295G>T
XR_001756012.2:n.4443G>T
XR_001756013.2:n.3761G>T
XR_002958832.1:n.3862G>T
XR_002958834.1:n.4086G>T
XR_002958835.1:n.3969G>T
XR_002958836.1:n.4652G>T
XR_002958837.1:n.4459G>T
XR_244571.4:n.3979G>T
XR_430568.4:n.4313G>T
NM_001146706.2:c.3521G>T	NP_001140178.1:p.Cys1174Phe
NM_004653.5:c.3692G>T MANE Select	NP_004644.2:p.Cys1231Phe
NM_001146705.2:c.3785G>T	NP_001140177.1:p.Cys1262Phe