Canonical Allele Identifier: CA414843661

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869465A>C (hg19) ; chrY:g.19707579A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707579A>C , CM000686.2:g.19707579A>C	GRCh38
NC_000024.9:g.21869465A>C , CM000686.1:g.21869465A>C	GRCh37
NC_000024.8:g.20328853A>C	NCBI36
NG_032920.1:g.42361T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3567T>G MANE Select	ENSP00000322408.4:p.Cys1189Trp
ENST00000317961.8:c.3567T>G	ENSP00000322408.4:p.Cys1189Trp
ENST00000382806.6:c.3396T>G	ENSP00000372256.2:p.Cys1132Trp
ENST00000415360.1:c.483T>G	ENSP00000389433.1:p.Cys161Trp
ENST00000440077.5:c.3444T>G	ENSP00000398543.1:p.Cys1148Trp
ENST00000469599.6:n.2165T>G
ENST00000492117.1:n.3459T>G
ENST00000541639.5:c.3660T>G	ENSP00000444293.1:p.Cys1220Trp
NM_001146705.1:c.3660T>G	NP_001140177.1:p.Cys1220Trp
NM_001146706.1:c.3396T>G	NP_001140178.1:p.Cys1132Trp
NM_004653.4:c.3567T>G	NP_004644.2:p.Cys1189Trp
XM_005262560.1:c.3432T>G	XP_005262617.1:p.Cys1144Trp
XM_005262561.1:c.3336T>G	XP_005262618.1:p.Cys1112Trp
XM_011531468.1:c.3489T>G	XP_011529770.1:p.Cys1163Trp
XR_244571.2:n.3855T>G
XR_430568.2:n.4189T>G
XM_005262560.3:c.3432T>G	XP_005262617.1:p.Cys1144Trp
XM_005262561.3:c.3336T>G	XP_005262618.1:p.Cys1112Trp
XM_011531468.3:c.3489T>G	XP_011529770.1:p.Cys1163Trp
XM_024452495.1:c.1557T>G	XP_024308263.1:p.Cys519Trp
XM_024452496.1:c.1323T>G	XP_024308264.1:p.Cys441Trp
XR_001756009.2:n.4305T>G
XR_001756010.2:n.4305T>G
XR_001756011.2:n.4170T>G
XR_001756012.2:n.4318T>G
XR_001756013.2:n.3636T>G
XR_002958832.1:n.3737T>G
XR_002958834.1:n.3961T>G
XR_002958835.1:n.3844T>G
XR_002958836.1:n.4527T>G
XR_002958837.1:n.4334T>G
XR_244571.4:n.3854T>G
XR_430568.4:n.4188T>G
NM_001146706.2:c.3396T>G	NP_001140178.1:p.Cys1132Trp
NM_004653.5:c.3567T>G MANE Select	NP_004644.2:p.Cys1189Trp
NM_001146705.2:c.3660T>G	NP_001140177.1:p.Cys1220Trp