Canonical Allele Identifier: CA414843221

Gene: KDM5D

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3685T>C MANE Select	ENSP00000322408.4:p.Phe1229Leu
ENST00000317961.8:c.3685T>C	ENSP00000322408.4:p.Phe1229Leu
ENST00000382806.6:c.3514T>C	ENSP00000372256.2:p.Phe1172Leu
ENST00000415360.1:c.601T>C	ENSP00000389433.1:p.Phe201Leu
ENST00000440077.5:c.3562T>C	ENSP00000398543.1:p.Phe1188Leu
ENST00000469599.6:n.2283T>C
ENST00000492117.1:n.3577T>C
ENST00000541639.5:c.3778T>C	ENSP00000444293.1:p.Phe1260Leu
NM_001146705.1:c.3778T>C	NP_001140177.1:p.Phe1260Leu
NM_001146706.1:c.3514T>C	NP_001140178.1:p.Phe1172Leu
NM_004653.4:c.3685T>C	NP_004644.2:p.Phe1229Leu
XM_005262560.1:c.3550T>C	XP_005262617.1:p.Phe1184Leu
XM_005262561.1:c.3454T>C	XP_005262618.1:p.Phe1152Leu
XM_011531468.1:c.3607T>C	XP_011529770.1:p.Phe1203Leu
XR_244571.2:n.3973T>C
XR_430568.2:n.4307T>C
XM_005262560.3:c.3550T>C	XP_005262617.1:p.Phe1184Leu
XM_005262561.3:c.3454T>C	XP_005262618.1:p.Phe1152Leu
XM_011531468.3:c.3607T>C	XP_011529770.1:p.Phe1203Leu
XM_024452495.1:c.1675T>C	XP_024308263.1:p.Phe559Leu
XM_024452496.1:c.1441T>C	XP_024308264.1:p.Phe481Leu
XR_001756009.2:n.4423T>C
XR_001756010.2:n.4423T>C
XR_001756011.2:n.4288T>C
XR_001756012.2:n.4436T>C
XR_001756013.2:n.3754T>C
XR_002958832.1:n.3855T>C
XR_002958834.1:n.4079T>C
XR_002958835.1:n.3962T>C
XR_002958836.1:n.4645T>C
XR_002958837.1:n.4452T>C
XR_244571.4:n.3972T>C
XR_430568.4:n.4306T>C
NM_001146706.2:c.3514T>C	NP_001140178.1:p.Phe1172Leu
NM_004653.5:c.3685T>C MANE Select	NP_004644.2:p.Phe1229Leu
NM_001146705.2:c.3778T>C	NP_001140177.1:p.Phe1260Leu