Canonical Allele Identifier: CA414843791

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869501A>C (hg19) ; chrY:g.19707615A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707615A>C , CM000686.2:g.19707615A>C	GRCh38
NC_000024.9:g.21869501A>C , CM000686.1:g.21869501A>C	GRCh37
NC_000024.8:g.20328889A>C	NCBI36
NG_032920.1:g.42325T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3531T>G MANE Select	ENSP00000322408.4:p.Cys1177Trp
ENST00000317961.8:c.3531T>G	ENSP00000322408.4:p.Cys1177Trp
ENST00000382806.6:c.3360T>G	ENSP00000372256.2:p.Cys1120Trp
ENST00000415360.1:c.447T>G	ENSP00000389433.1:p.Cys149Trp
ENST00000440077.5:c.3408T>G	ENSP00000398543.1:p.Cys1136Trp
ENST00000469599.6:n.2129T>G
ENST00000492117.1:n.3423T>G
ENST00000541639.5:c.3624T>G	ENSP00000444293.1:p.Cys1208Trp
NM_001146705.1:c.3624T>G	NP_001140177.1:p.Cys1208Trp
NM_001146706.1:c.3360T>G	NP_001140178.1:p.Cys1120Trp
NM_004653.4:c.3531T>G	NP_004644.2:p.Cys1177Trp
XM_005262560.1:c.3396T>G	XP_005262617.1:p.Cys1132Trp
XM_005262561.1:c.3300T>G	XP_005262618.1:p.Cys1100Trp
XM_011531468.1:c.3453T>G	XP_011529770.1:p.Cys1151Trp
XR_244571.2:n.3819T>G
XR_430568.2:n.4153T>G
XM_005262560.3:c.3396T>G	XP_005262617.1:p.Cys1132Trp
XM_005262561.3:c.3300T>G	XP_005262618.1:p.Cys1100Trp
XM_011531468.3:c.3453T>G	XP_011529770.1:p.Cys1151Trp
XM_024452495.1:c.1521T>G	XP_024308263.1:p.Cys507Trp
XM_024452496.1:c.1287T>G	XP_024308264.1:p.Cys429Trp
XR_001756009.2:n.4269T>G
XR_001756010.2:n.4269T>G
XR_001756011.2:n.4134T>G
XR_001756012.2:n.4282T>G
XR_001756013.2:n.3600T>G
XR_002958832.1:n.3701T>G
XR_002958834.1:n.3925T>G
XR_002958835.1:n.3808T>G
XR_002958836.1:n.4491T>G
XR_002958837.1:n.4298T>G
XR_244571.4:n.3818T>G
XR_430568.4:n.4152T>G
NM_001146706.2:c.3360T>G	NP_001140178.1:p.Cys1120Trp
NM_004653.5:c.3531T>G MANE Select	NP_004644.2:p.Cys1177Trp
NM_001146705.2:c.3624T>G	NP_001140177.1:p.Cys1208Trp