Canonical Allele Identifier: CA414843352

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869386A>T (hg19) ; chrY:g.19707500A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707500A>T , CM000686.2:g.19707500A>T	GRCh38
NC_000024.9:g.21869386A>T , CM000686.1:g.21869386A>T	GRCh37
NC_000024.8:g.20328774A>T	NCBI36
NG_032920.1:g.42440T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3646T>A MANE Select	ENSP00000322408.4:p.Ser1216Thr
ENST00000317961.8:c.3646T>A	ENSP00000322408.4:p.Ser1216Thr
ENST00000382806.6:c.3475T>A	ENSP00000372256.2:p.Ser1159Thr
ENST00000415360.1:c.562T>A	ENSP00000389433.1:p.Ser188Thr
ENST00000440077.5:c.3523T>A	ENSP00000398543.1:p.Ser1175Thr
ENST00000469599.6:n.2244T>A
ENST00000492117.1:n.3538T>A
ENST00000541639.5:c.3739T>A	ENSP00000444293.1:p.Ser1247Thr
NM_001146705.1:c.3739T>A	NP_001140177.1:p.Ser1247Thr
NM_001146706.1:c.3475T>A	NP_001140178.1:p.Ser1159Thr
NM_004653.4:c.3646T>A	NP_004644.2:p.Ser1216Thr
XM_005262560.1:c.3511T>A	XP_005262617.1:p.Ser1171Thr
XM_005262561.1:c.3415T>A	XP_005262618.1:p.Ser1139Thr
XM_011531468.1:c.3568T>A	XP_011529770.1:p.Ser1190Thr
XR_244571.2:n.3934T>A
XR_430568.2:n.4268T>A
XM_005262560.3:c.3511T>A	XP_005262617.1:p.Ser1171Thr
XM_005262561.3:c.3415T>A	XP_005262618.1:p.Ser1139Thr
XM_011531468.3:c.3568T>A	XP_011529770.1:p.Ser1190Thr
XM_024452495.1:c.1636T>A	XP_024308263.1:p.Ser546Thr
XM_024452496.1:c.1402T>A	XP_024308264.1:p.Ser468Thr
XR_001756009.2:n.4384T>A
XR_001756010.2:n.4384T>A
XR_001756011.2:n.4249T>A
XR_001756012.2:n.4397T>A
XR_001756013.2:n.3715T>A
XR_002958832.1:n.3816T>A
XR_002958834.1:n.4040T>A
XR_002958835.1:n.3923T>A
XR_002958836.1:n.4606T>A
XR_002958837.1:n.4413T>A
XR_244571.4:n.3933T>A
XR_430568.4:n.4267T>A
NM_001146706.2:c.3475T>A	NP_001140178.1:p.Ser1159Thr
NM_004653.5:c.3646T>A MANE Select	NP_004644.2:p.Ser1216Thr
NM_001146705.2:c.3739T>A	NP_001140177.1:p.Ser1247Thr