Canonical Allele Identifier: CA414844690

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869933C>A (hg19) ; chrY:g.19708047C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19708047C>A , CM000686.2:g.19708047C>A	GRCh38
NC_000024.9:g.21869933C>A , CM000686.1:g.21869933C>A	GRCh37
NC_000024.8:g.20329321C>A	NCBI36
NG_032920.1:g.41893G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3286G>T MANE Select	ENSP00000322408.4:p.Gly1096Cys
ENST00000317961.8:c.3286G>T	ENSP00000322408.4:p.Gly1096Cys
ENST00000382806.6:c.3115G>T	ENSP00000372256.2:p.Gly1039Cys
ENST00000415360.1:c.202G>T	ENSP00000389433.1:p.Gly68Cys
ENST00000440077.5:c.3163G>T	ENSP00000398543.1:p.Gly1055Cys
ENST00000469599.6:n.1884G>T
ENST00000492117.1:n.3178G>T
ENST00000541639.5:c.3379G>T	ENSP00000444293.1:p.Gly1127Cys
NM_001146705.1:c.3379G>T	NP_001140177.1:p.Gly1127Cys
NM_001146706.1:c.3115G>T	NP_001140178.1:p.Gly1039Cys
NM_004653.4:c.3286G>T	NP_004644.2:p.Gly1096Cys
XM_005262560.1:c.3151G>T	XP_005262617.1:p.Gly1051Cys
XM_005262561.1:c.3055G>T	XP_005262618.1:p.Gly1019Cys
XM_011531468.1:c.3208G>T	XP_011529770.1:p.Gly1070Cys
XR_244571.2:n.3574G>T
XR_430568.2:n.3908G>T
XM_005262560.3:c.3151G>T	XP_005262617.1:p.Gly1051Cys
XM_005262561.3:c.3055G>T	XP_005262618.1:p.Gly1019Cys
XM_011531468.3:c.3208G>T	XP_011529770.1:p.Gly1070Cys
XM_024452495.1:c.1276G>T	XP_024308263.1:p.Gly426Cys
XM_024452496.1:c.1042G>T	XP_024308264.1:p.Gly348Cys
XR_001756009.2:n.4024G>T
XR_001756010.2:n.4024G>T
XR_001756011.2:n.3889G>T
XR_001756012.2:n.4037G>T
XR_001756013.2:n.3355G>T
XR_002958832.1:n.3456G>T
XR_002958834.1:n.3680G>T
XR_002958835.1:n.3563G>T
XR_002958836.1:n.4246G>T
XR_002958837.1:n.4053G>T
XR_244571.4:n.3573G>T
XR_430568.4:n.3907G>T
NM_001146706.2:c.3115G>T	NP_001140178.1:p.Gly1039Cys
NM_004653.5:c.3286G>T MANE Select	NP_004644.2:p.Gly1096Cys
NM_001146705.2:c.3379G>T	NP_001140177.1:p.Gly1127Cys