Canonical Allele Identifier: CA414840345

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21868042C>A (hg19) ; chrY:g.19706156C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706156C>A , CM000686.2:g.19706156C>A	GRCh38
NC_000024.9:g.21868042C>A , CM000686.1:g.21868042C>A	GRCh37
NC_000024.8:g.20327430C>A	NCBI36
NG_032920.1:g.43784G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4459G>T MANE Select	ENSP00000322408.4:p.Ala1487Ser
ENST00000317961.8:c.4459G>T	ENSP00000322408.4:p.Ala1487Ser
ENST00000382806.6:c.4288G>T	ENSP00000372256.2:p.Ala1430Ser
ENST00000440077.5:c.4336G>T	ENSP00000398543.1:p.Ala1446Ser
ENST00000469599.6:n.3210G>T
ENST00000492117.1:n.4504G>T
ENST00000541639.5:c.4552G>T	ENSP00000444293.1:p.Ala1518Ser
NM_001146705.1:c.4552G>T	NP_001140177.1:p.Ala1518Ser
NM_001146706.1:c.4288G>T	NP_001140178.1:p.Ala1430Ser
NM_004653.4:c.4459G>T	NP_004644.2:p.Ala1487Ser
XM_005262560.1:c.4324G>T	XP_005262617.1:p.Ala1442Ser
XM_005262561.1:c.4228G>T	XP_005262618.1:p.Ala1410Ser
XM_011531468.1:c.4381G>T	XP_011529770.1:p.Ala1461Ser
XR_430568.2:n.5234G>T
XM_005262560.3:c.4324G>T	XP_005262617.1:p.Ala1442Ser
XM_005262561.3:c.4228G>T	XP_005262618.1:p.Ala1410Ser
XM_011531468.3:c.4381G>T	XP_011529770.1:p.Ala1461Ser
XM_024452495.1:c.2449G>T	XP_024308263.1:p.Ala817Ser
XM_024452496.1:c.2215G>T	XP_024308264.1:p.Ala739Ser
XR_001756009.2:n.5197G>T
XR_001756010.2:n.5165G>T
XR_001756011.2:n.5062G>T
XR_001756012.2:n.5210G>T
XR_001756013.2:n.4528G>T
XR_002958832.1:n.4782G>T
XR_002958834.1:n.4853G>T
XR_002958835.1:n.4736G>T
XR_002958836.1:n.5387G>T
XR_002958837.1:n.5194G>T
XR_244571.4:n.4714G>T
XR_430568.4:n.5233G>T
NM_001146706.2:c.4288G>T	NP_001140178.1:p.Ala1430Ser
NM_004653.5:c.4459G>T MANE Select	NP_004644.2:p.Ala1487Ser
NM_001146705.2:c.4552G>T	NP_001140177.1:p.Ala1518Ser