Canonical Allele Identifier: CA414843219

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869347A>C (hg19) ; chrY:g.19707461A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707461A>C , CM000686.2:g.19707461A>C	GRCh38
NC_000024.9:g.21869347A>C , CM000686.1:g.21869347A>C	GRCh37
NC_000024.8:g.20328735A>C	NCBI36
NG_032920.1:g.42479T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3685T>G MANE Select	ENSP00000322408.4:p.Phe1229Val
ENST00000317961.8:c.3685T>G	ENSP00000322408.4:p.Phe1229Val
ENST00000382806.6:c.3514T>G	ENSP00000372256.2:p.Phe1172Val
ENST00000415360.1:c.601T>G	ENSP00000389433.1:p.Phe201Val
ENST00000440077.5:c.3562T>G	ENSP00000398543.1:p.Phe1188Val
ENST00000469599.6:n.2283T>G
ENST00000492117.1:n.3577T>G
ENST00000541639.5:c.3778T>G	ENSP00000444293.1:p.Phe1260Val
NM_001146705.1:c.3778T>G	NP_001140177.1:p.Phe1260Val
NM_001146706.1:c.3514T>G	NP_001140178.1:p.Phe1172Val
NM_004653.4:c.3685T>G	NP_004644.2:p.Phe1229Val
XM_005262560.1:c.3550T>G	XP_005262617.1:p.Phe1184Val
XM_005262561.1:c.3454T>G	XP_005262618.1:p.Phe1152Val
XM_011531468.1:c.3607T>G	XP_011529770.1:p.Phe1203Val
XR_244571.2:n.3973T>G
XR_430568.2:n.4307T>G
XM_005262560.3:c.3550T>G	XP_005262617.1:p.Phe1184Val
XM_005262561.3:c.3454T>G	XP_005262618.1:p.Phe1152Val
XM_011531468.3:c.3607T>G	XP_011529770.1:p.Phe1203Val
XM_024452495.1:c.1675T>G	XP_024308263.1:p.Phe559Val
XM_024452496.1:c.1441T>G	XP_024308264.1:p.Phe481Val
XR_001756009.2:n.4423T>G
XR_001756010.2:n.4423T>G
XR_001756011.2:n.4288T>G
XR_001756012.2:n.4436T>G
XR_001756013.2:n.3754T>G
XR_002958832.1:n.3855T>G
XR_002958834.1:n.4079T>G
XR_002958835.1:n.3962T>G
XR_002958836.1:n.4645T>G
XR_002958837.1:n.4452T>G
XR_244571.4:n.3972T>G
XR_430568.4:n.4306T>G
NM_001146706.2:c.3514T>G	NP_001140178.1:p.Phe1172Val
NM_004653.5:c.3685T>G MANE Select	NP_004644.2:p.Phe1229Val
NM_001146705.2:c.3778T>G	NP_001140177.1:p.Phe1260Val