Canonical Allele Identifier: CA414843217

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869346A>C (hg19) ; chrY:g.19707460A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707460A>C , CM000686.2:g.19707460A>C	GRCh38
NC_000024.9:g.21869346A>C , CM000686.1:g.21869346A>C	GRCh37
NC_000024.8:g.20328734A>C	NCBI36
NG_032920.1:g.42480T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3686T>G MANE Select	ENSP00000322408.4:p.Phe1229Cys
ENST00000317961.8:c.3686T>G	ENSP00000322408.4:p.Phe1229Cys
ENST00000382806.6:c.3515T>G	ENSP00000372256.2:p.Phe1172Cys
ENST00000415360.1:c.602T>G	ENSP00000389433.1:p.Phe201Cys
ENST00000440077.5:c.3563T>G	ENSP00000398543.1:p.Phe1188Cys
ENST00000469599.6:n.2284T>G
ENST00000492117.1:n.3578T>G
ENST00000541639.5:c.3779T>G	ENSP00000444293.1:p.Phe1260Cys
NM_001146705.1:c.3779T>G	NP_001140177.1:p.Phe1260Cys
NM_001146706.1:c.3515T>G	NP_001140178.1:p.Phe1172Cys
NM_004653.4:c.3686T>G	NP_004644.2:p.Phe1229Cys
XM_005262560.1:c.3551T>G	XP_005262617.1:p.Phe1184Cys
XM_005262561.1:c.3455T>G	XP_005262618.1:p.Phe1152Cys
XM_011531468.1:c.3608T>G	XP_011529770.1:p.Phe1203Cys
XR_244571.2:n.3974T>G
XR_430568.2:n.4308T>G
XM_005262560.3:c.3551T>G	XP_005262617.1:p.Phe1184Cys
XM_005262561.3:c.3455T>G	XP_005262618.1:p.Phe1152Cys
XM_011531468.3:c.3608T>G	XP_011529770.1:p.Phe1203Cys
XM_024452495.1:c.1676T>G	XP_024308263.1:p.Phe559Cys
XM_024452496.1:c.1442T>G	XP_024308264.1:p.Phe481Cys
XR_001756009.2:n.4424T>G
XR_001756010.2:n.4424T>G
XR_001756011.2:n.4289T>G
XR_001756012.2:n.4437T>G
XR_001756013.2:n.3755T>G
XR_002958832.1:n.3856T>G
XR_002958834.1:n.4080T>G
XR_002958835.1:n.3963T>G
XR_002958836.1:n.4646T>G
XR_002958837.1:n.4453T>G
XR_244571.4:n.3973T>G
XR_430568.4:n.4307T>G
NM_001146706.2:c.3515T>G	NP_001140178.1:p.Phe1172Cys
NM_004653.5:c.3686T>G MANE Select	NP_004644.2:p.Phe1229Cys
NM_001146705.2:c.3779T>G	NP_001140177.1:p.Phe1260Cys