Canonical Allele Identifier: CA414843500

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869427G>A (hg19) ; chrY:g.19707541G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707541G>A , CM000686.2:g.19707541G>A	GRCh38
NC_000024.9:g.21869427G>A , CM000686.1:g.21869427G>A	GRCh37
NC_000024.8:g.20328815G>A	NCBI36
NG_032920.1:g.42399C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3605C>T MANE Select	ENSP00000322408.4:p.Ser1202Leu
ENST00000317961.8:c.3605C>T	ENSP00000322408.4:p.Ser1202Leu
ENST00000382806.6:c.3434C>T	ENSP00000372256.2:p.Ser1145Leu
ENST00000415360.1:c.521C>T	ENSP00000389433.1:p.Ser174Leu
ENST00000440077.5:c.3482C>T	ENSP00000398543.1:p.Ser1161Leu
ENST00000469599.6:n.2203C>T
ENST00000492117.1:n.3497C>T
ENST00000541639.5:c.3698C>T	ENSP00000444293.1:p.Ser1233Leu
NM_001146705.1:c.3698C>T	NP_001140177.1:p.Ser1233Leu
NM_001146706.1:c.3434C>T	NP_001140178.1:p.Ser1145Leu
NM_004653.4:c.3605C>T	NP_004644.2:p.Ser1202Leu
XM_005262560.1:c.3470C>T	XP_005262617.1:p.Ser1157Leu
XM_005262561.1:c.3374C>T	XP_005262618.1:p.Ser1125Leu
XM_011531468.1:c.3527C>T	XP_011529770.1:p.Ser1176Leu
XR_244571.2:n.3893C>T
XR_430568.2:n.4227C>T
XM_005262560.3:c.3470C>T	XP_005262617.1:p.Ser1157Leu
XM_005262561.3:c.3374C>T	XP_005262618.1:p.Ser1125Leu
XM_011531468.3:c.3527C>T	XP_011529770.1:p.Ser1176Leu
XM_024452495.1:c.1595C>T	XP_024308263.1:p.Ser532Leu
XM_024452496.1:c.1361C>T	XP_024308264.1:p.Ser454Leu
XR_001756009.2:n.4343C>T
XR_001756010.2:n.4343C>T
XR_001756011.2:n.4208C>T
XR_001756012.2:n.4356C>T
XR_001756013.2:n.3674C>T
XR_002958832.1:n.3775C>T
XR_002958834.1:n.3999C>T
XR_002958835.1:n.3882C>T
XR_002958836.1:n.4565C>T
XR_002958837.1:n.4372C>T
XR_244571.4:n.3892C>T
XR_430568.4:n.4226C>T
NM_001146706.2:c.3434C>T	NP_001140178.1:p.Ser1145Leu
NM_004653.5:c.3605C>T MANE Select	NP_004644.2:p.Ser1202Leu
NM_001146705.2:c.3698C>T	NP_001140177.1:p.Ser1233Leu