Canonical Allele Identifier: CA414840446

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21868063C>T (hg19) ; chrY:g.19706177C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706177C>T , CM000686.2:g.19706177C>T	GRCh38
NC_000024.9:g.21868063C>T , CM000686.1:g.21868063C>T	GRCh37
NC_000024.8:g.20327451C>T	NCBI36
NG_032920.1:g.43763G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4438G>A MANE Select	ENSP00000322408.4:p.Glu1480Lys
ENST00000317961.8:c.4438G>A	ENSP00000322408.4:p.Glu1480Lys
ENST00000382806.6:c.4267G>A	ENSP00000372256.2:p.Glu1423Lys
ENST00000440077.5:c.4315G>A	ENSP00000398543.1:p.Glu1439Lys
ENST00000469599.6:n.3189G>A
ENST00000492117.1:n.4483G>A
ENST00000541639.5:c.4531G>A	ENSP00000444293.1:p.Glu1511Lys
NM_001146705.1:c.4531G>A	NP_001140177.1:p.Glu1511Lys
NM_001146706.1:c.4267G>A	NP_001140178.1:p.Glu1423Lys
NM_004653.4:c.4438G>A	NP_004644.2:p.Glu1480Lys
XM_005262560.1:c.4303G>A	XP_005262617.1:p.Glu1435Lys
XM_005262561.1:c.4207G>A	XP_005262618.1:p.Glu1403Lys
XM_011531468.1:c.4360G>A	XP_011529770.1:p.Glu1454Lys
XR_430568.2:n.5213G>A
XM_005262560.3:c.4303G>A	XP_005262617.1:p.Glu1435Lys
XM_005262561.3:c.4207G>A	XP_005262618.1:p.Glu1403Lys
XM_011531468.3:c.4360G>A	XP_011529770.1:p.Glu1454Lys
XM_024452495.1:c.2428G>A	XP_024308263.1:p.Glu810Lys
XM_024452496.1:c.2194G>A	XP_024308264.1:p.Glu732Lys
XR_001756009.2:n.5176G>A
XR_001756010.2:n.5144G>A
XR_001756011.2:n.5041G>A
XR_001756012.2:n.5189G>A
XR_001756013.2:n.4507G>A
XR_002958832.1:n.4761G>A
XR_002958834.1:n.4832G>A
XR_002958835.1:n.4715G>A
XR_002958836.1:n.5366G>A
XR_002958837.1:n.5173G>A
XR_244571.4:n.4693G>A
XR_430568.4:n.5212G>A
NM_001146706.2:c.4267G>A	NP_001140178.1:p.Glu1423Lys
NM_004653.5:c.4438G>A MANE Select	NP_004644.2:p.Glu1480Lys
NM_001146705.2:c.4531G>A	NP_001140177.1:p.Glu1511Lys