Canonical Allele Identifier: CA414843351

Gene: KDM5D

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3646T>C MANE Select	ENSP00000322408.4:p.Ser1216Pro
ENST00000317961.8:c.3646T>C	ENSP00000322408.4:p.Ser1216Pro
ENST00000382806.6:c.3475T>C	ENSP00000372256.2:p.Ser1159Pro
ENST00000415360.1:c.562T>C	ENSP00000389433.1:p.Ser188Pro
ENST00000440077.5:c.3523T>C	ENSP00000398543.1:p.Ser1175Pro
ENST00000469599.6:n.2244T>C
ENST00000492117.1:n.3538T>C
ENST00000541639.5:c.3739T>C	ENSP00000444293.1:p.Ser1247Pro
NM_001146705.1:c.3739T>C	NP_001140177.1:p.Ser1247Pro
NM_001146706.1:c.3475T>C	NP_001140178.1:p.Ser1159Pro
NM_004653.4:c.3646T>C	NP_004644.2:p.Ser1216Pro
XM_005262560.1:c.3511T>C	XP_005262617.1:p.Ser1171Pro
XM_005262561.1:c.3415T>C	XP_005262618.1:p.Ser1139Pro
XM_011531468.1:c.3568T>C	XP_011529770.1:p.Ser1190Pro
XR_244571.2:n.3934T>C
XR_430568.2:n.4268T>C
XM_005262560.3:c.3511T>C	XP_005262617.1:p.Ser1171Pro
XM_005262561.3:c.3415T>C	XP_005262618.1:p.Ser1139Pro
XM_011531468.3:c.3568T>C	XP_011529770.1:p.Ser1190Pro
XM_024452495.1:c.1636T>C	XP_024308263.1:p.Ser546Pro
XM_024452496.1:c.1402T>C	XP_024308264.1:p.Ser468Pro
XR_001756009.2:n.4384T>C
XR_001756010.2:n.4384T>C
XR_001756011.2:n.4249T>C
XR_001756012.2:n.4397T>C
XR_001756013.2:n.3715T>C
XR_002958832.1:n.3816T>C
XR_002958834.1:n.4040T>C
XR_002958835.1:n.3923T>C
XR_002958836.1:n.4606T>C
XR_002958837.1:n.4413T>C
XR_244571.4:n.3933T>C
XR_430568.4:n.4267T>C
NM_001146706.2:c.3475T>C	NP_001140178.1:p.Ser1159Pro
NM_004653.5:c.3646T>C MANE Select	NP_004644.2:p.Ser1216Pro
NM_001146705.2:c.3739T>C	NP_001140177.1:p.Ser1247Pro