Canonical Allele Identifier: CA414844083

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869593C>A (hg19) ; chrY:g.19707707C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707707C>A , CM000686.2:g.19707707C>A	GRCh38
NC_000024.9:g.21869593C>A , CM000686.1:g.21869593C>A	GRCh37
NC_000024.8:g.20328981C>A	NCBI36
NG_032920.1:g.42233G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3439G>T MANE Select	ENSP00000322408.4:p.Gly1147Cys
ENST00000317961.8:c.3439G>T	ENSP00000322408.4:p.Gly1147Cys
ENST00000382806.6:c.3268G>T	ENSP00000372256.2:p.Gly1090Cys
ENST00000415360.1:c.355G>T	ENSP00000389433.1:p.Gly119Cys
ENST00000440077.5:c.3316G>T	ENSP00000398543.1:p.Gly1106Cys
ENST00000469599.6:n.2037G>T
ENST00000492117.1:n.3331G>T
ENST00000541639.5:c.3532G>T	ENSP00000444293.1:p.Gly1178Cys
NM_001146705.1:c.3532G>T	NP_001140177.1:p.Gly1178Cys
NM_001146706.1:c.3268G>T	NP_001140178.1:p.Gly1090Cys
NM_004653.4:c.3439G>T	NP_004644.2:p.Gly1147Cys
XM_005262560.1:c.3304G>T	XP_005262617.1:p.Gly1102Cys
XM_005262561.1:c.3208G>T	XP_005262618.1:p.Gly1070Cys
XM_011531468.1:c.3361G>T	XP_011529770.1:p.Gly1121Cys
XR_244571.2:n.3727G>T
XR_430568.2:n.4061G>T
XM_005262560.3:c.3304G>T	XP_005262617.1:p.Gly1102Cys
XM_005262561.3:c.3208G>T	XP_005262618.1:p.Gly1070Cys
XM_011531468.3:c.3361G>T	XP_011529770.1:p.Gly1121Cys
XM_024452495.1:c.1429G>T	XP_024308263.1:p.Gly477Cys
XM_024452496.1:c.1195G>T	XP_024308264.1:p.Gly399Cys
XR_001756009.2:n.4177G>T
XR_001756010.2:n.4177G>T
XR_001756011.2:n.4042G>T
XR_001756012.2:n.4190G>T
XR_001756013.2:n.3508G>T
XR_002958832.1:n.3609G>T
XR_002958834.1:n.3833G>T
XR_002958835.1:n.3716G>T
XR_002958836.1:n.4399G>T
XR_002958837.1:n.4206G>T
XR_244571.4:n.3726G>T
XR_430568.4:n.4060G>T
NM_001146706.2:c.3268G>T	NP_001140178.1:p.Gly1090Cys
NM_004653.5:c.3439G>T MANE Select	NP_004644.2:p.Gly1147Cys
NM_001146705.2:c.3532G>T	NP_001140177.1:p.Gly1178Cys