Canonical Allele Identifier: CA414843350

Gene: KDM5D

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3646T>G MANE Select	ENSP00000322408.4:p.Ser1216Ala
ENST00000317961.8:c.3646T>G	ENSP00000322408.4:p.Ser1216Ala
ENST00000382806.6:c.3475T>G	ENSP00000372256.2:p.Ser1159Ala
ENST00000415360.1:c.562T>G	ENSP00000389433.1:p.Ser188Ala
ENST00000440077.5:c.3523T>G	ENSP00000398543.1:p.Ser1175Ala
ENST00000469599.6:n.2244T>G
ENST00000492117.1:n.3538T>G
ENST00000541639.5:c.3739T>G	ENSP00000444293.1:p.Ser1247Ala
NM_001146705.1:c.3739T>G	NP_001140177.1:p.Ser1247Ala
NM_001146706.1:c.3475T>G	NP_001140178.1:p.Ser1159Ala
NM_004653.4:c.3646T>G	NP_004644.2:p.Ser1216Ala
XM_005262560.1:c.3511T>G	XP_005262617.1:p.Ser1171Ala
XM_005262561.1:c.3415T>G	XP_005262618.1:p.Ser1139Ala
XM_011531468.1:c.3568T>G	XP_011529770.1:p.Ser1190Ala
XR_244571.2:n.3934T>G
XR_430568.2:n.4268T>G
XM_005262560.3:c.3511T>G	XP_005262617.1:p.Ser1171Ala
XM_005262561.3:c.3415T>G	XP_005262618.1:p.Ser1139Ala
XM_011531468.3:c.3568T>G	XP_011529770.1:p.Ser1190Ala
XM_024452495.1:c.1636T>G	XP_024308263.1:p.Ser546Ala
XM_024452496.1:c.1402T>G	XP_024308264.1:p.Ser468Ala
XR_001756009.2:n.4384T>G
XR_001756010.2:n.4384T>G
XR_001756011.2:n.4249T>G
XR_001756012.2:n.4397T>G
XR_001756013.2:n.3715T>G
XR_002958832.1:n.3816T>G
XR_002958834.1:n.4040T>G
XR_002958835.1:n.3923T>G
XR_002958836.1:n.4606T>G
XR_002958837.1:n.4413T>G
XR_244571.4:n.3933T>G
XR_430568.4:n.4267T>G
NM_001146706.2:c.3475T>G	NP_001140178.1:p.Ser1159Ala
NM_004653.5:c.3646T>G MANE Select	NP_004644.2:p.Ser1216Ala
NM_001146705.2:c.3739T>G	NP_001140177.1:p.Ser1247Ala