Canonical Allele Identifier: CA414843665

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869466C>A (hg19) ; chrY:g.19707580C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707580C>A , CM000686.2:g.19707580C>A	GRCh38
NC_000024.9:g.21869466C>A , CM000686.1:g.21869466C>A	GRCh37
NC_000024.8:g.20328854C>A	NCBI36
NG_032920.1:g.42360G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3566G>T MANE Select	ENSP00000322408.4:p.Cys1189Phe
ENST00000317961.8:c.3566G>T	ENSP00000322408.4:p.Cys1189Phe
ENST00000382806.6:c.3395G>T	ENSP00000372256.2:p.Cys1132Phe
ENST00000415360.1:c.482G>T	ENSP00000389433.1:p.Cys161Phe
ENST00000440077.5:c.3443G>T	ENSP00000398543.1:p.Cys1148Phe
ENST00000469599.6:n.2164G>T
ENST00000492117.1:n.3458G>T
ENST00000541639.5:c.3659G>T	ENSP00000444293.1:p.Cys1220Phe
NM_001146705.1:c.3659G>T	NP_001140177.1:p.Cys1220Phe
NM_001146706.1:c.3395G>T	NP_001140178.1:p.Cys1132Phe
NM_004653.4:c.3566G>T	NP_004644.2:p.Cys1189Phe
XM_005262560.1:c.3431G>T	XP_005262617.1:p.Cys1144Phe
XM_005262561.1:c.3335G>T	XP_005262618.1:p.Cys1112Phe
XM_011531468.1:c.3488G>T	XP_011529770.1:p.Cys1163Phe
XR_244571.2:n.3854G>T
XR_430568.2:n.4188G>T
XM_005262560.3:c.3431G>T	XP_005262617.1:p.Cys1144Phe
XM_005262561.3:c.3335G>T	XP_005262618.1:p.Cys1112Phe
XM_011531468.3:c.3488G>T	XP_011529770.1:p.Cys1163Phe
XM_024452495.1:c.1556G>T	XP_024308263.1:p.Cys519Phe
XM_024452496.1:c.1322G>T	XP_024308264.1:p.Cys441Phe
XR_001756009.2:n.4304G>T
XR_001756010.2:n.4304G>T
XR_001756011.2:n.4169G>T
XR_001756012.2:n.4317G>T
XR_001756013.2:n.3635G>T
XR_002958832.1:n.3736G>T
XR_002958834.1:n.3960G>T
XR_002958835.1:n.3843G>T
XR_002958836.1:n.4526G>T
XR_002958837.1:n.4333G>T
XR_244571.4:n.3853G>T
XR_430568.4:n.4187G>T
NM_001146706.2:c.3395G>T	NP_001140178.1:p.Cys1132Phe
NM_004653.5:c.3566G>T MANE Select	NP_004644.2:p.Cys1189Phe
NM_001146705.2:c.3659G>T	NP_001140177.1:p.Cys1220Phe