Canonical Allele Identifier: CA414843265

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869360T>G (hg19) ; chrY:g.19707474T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707474T>G , CM000686.2:g.19707474T>G	GRCh38
NC_000024.9:g.21869360T>G , CM000686.1:g.21869360T>G	GRCh37
NC_000024.8:g.20328748T>G	NCBI36
NG_032920.1:g.42466A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3672A>C MANE Select	ENSP00000322408.4:p.Glu1224Asp
ENST00000317961.8:c.3672A>C	ENSP00000322408.4:p.Glu1224Asp
ENST00000382806.6:c.3501A>C	ENSP00000372256.2:p.Glu1167Asp
ENST00000415360.1:c.588A>C	ENSP00000389433.1:p.Glu196Asp
ENST00000440077.5:c.3549A>C	ENSP00000398543.1:p.Glu1183Asp
ENST00000469599.6:n.2270A>C
ENST00000492117.1:n.3564A>C
ENST00000541639.5:c.3765A>C	ENSP00000444293.1:p.Glu1255Asp
NM_001146705.1:c.3765A>C	NP_001140177.1:p.Glu1255Asp
NM_001146706.1:c.3501A>C	NP_001140178.1:p.Glu1167Asp
NM_004653.4:c.3672A>C	NP_004644.2:p.Glu1224Asp
XM_005262560.1:c.3537A>C	XP_005262617.1:p.Glu1179Asp
XM_005262561.1:c.3441A>C	XP_005262618.1:p.Glu1147Asp
XM_011531468.1:c.3594A>C	XP_011529770.1:p.Glu1198Asp
XR_244571.2:n.3960A>C
XR_430568.2:n.4294A>C
XM_005262560.3:c.3537A>C	XP_005262617.1:p.Glu1179Asp
XM_005262561.3:c.3441A>C	XP_005262618.1:p.Glu1147Asp
XM_011531468.3:c.3594A>C	XP_011529770.1:p.Glu1198Asp
XM_024452495.1:c.1662A>C	XP_024308263.1:p.Glu554Asp
XM_024452496.1:c.1428A>C	XP_024308264.1:p.Glu476Asp
XR_001756009.2:n.4410A>C
XR_001756010.2:n.4410A>C
XR_001756011.2:n.4275A>C
XR_001756012.2:n.4423A>C
XR_001756013.2:n.3741A>C
XR_002958832.1:n.3842A>C
XR_002958834.1:n.4066A>C
XR_002958835.1:n.3949A>C
XR_002958836.1:n.4632A>C
XR_002958837.1:n.4439A>C
XR_244571.4:n.3959A>C
XR_430568.4:n.4293A>C
NM_001146706.2:c.3501A>C	NP_001140178.1:p.Glu1167Asp
NM_004653.5:c.3672A>C MANE Select	NP_004644.2:p.Glu1224Asp
NM_001146705.2:c.3765A>C	NP_001140177.1:p.Glu1255Asp