Canonical Allele Identifier: CA414843515

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869432A>C (hg19) ; chrY:g.19707546A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707546A>C , CM000686.2:g.19707546A>C	GRCh38
NC_000024.9:g.21869432A>C , CM000686.1:g.21869432A>C	GRCh37
NC_000024.8:g.20328820A>C	NCBI36
NG_032920.1:g.42394T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3600T>G MANE Select	ENSP00000322408.4:p.Cys1200Trp
ENST00000317961.8:c.3600T>G	ENSP00000322408.4:p.Cys1200Trp
ENST00000382806.6:c.3429T>G	ENSP00000372256.2:p.Cys1143Trp
ENST00000415360.1:c.516T>G	ENSP00000389433.1:p.Cys172Trp
ENST00000440077.5:c.3477T>G	ENSP00000398543.1:p.Cys1159Trp
ENST00000469599.6:n.2198T>G
ENST00000492117.1:n.3492T>G
ENST00000541639.5:c.3693T>G	ENSP00000444293.1:p.Cys1231Trp
NM_001146705.1:c.3693T>G	NP_001140177.1:p.Cys1231Trp
NM_001146706.1:c.3429T>G	NP_001140178.1:p.Cys1143Trp
NM_004653.4:c.3600T>G	NP_004644.2:p.Cys1200Trp
XM_005262560.1:c.3465T>G	XP_005262617.1:p.Cys1155Trp
XM_005262561.1:c.3369T>G	XP_005262618.1:p.Cys1123Trp
XM_011531468.1:c.3522T>G	XP_011529770.1:p.Cys1174Trp
XR_244571.2:n.3888T>G
XR_430568.2:n.4222T>G
XM_005262560.3:c.3465T>G	XP_005262617.1:p.Cys1155Trp
XM_005262561.3:c.3369T>G	XP_005262618.1:p.Cys1123Trp
XM_011531468.3:c.3522T>G	XP_011529770.1:p.Cys1174Trp
XM_024452495.1:c.1590T>G	XP_024308263.1:p.Cys530Trp
XM_024452496.1:c.1356T>G	XP_024308264.1:p.Cys452Trp
XR_001756009.2:n.4338T>G
XR_001756010.2:n.4338T>G
XR_001756011.2:n.4203T>G
XR_001756012.2:n.4351T>G
XR_001756013.2:n.3669T>G
XR_002958832.1:n.3770T>G
XR_002958834.1:n.3994T>G
XR_002958835.1:n.3877T>G
XR_002958836.1:n.4560T>G
XR_002958837.1:n.4367T>G
XR_244571.4:n.3887T>G
XR_430568.4:n.4221T>G
NM_001146706.2:c.3429T>G	NP_001140178.1:p.Cys1143Trp
NM_004653.5:c.3600T>G MANE Select	NP_004644.2:p.Cys1200Trp
NM_001146705.2:c.3693T>G	NP_001140177.1:p.Cys1231Trp