Canonical Allele Identifier: CA414843173

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869334A>G (hg19) ; chrY:g.19707448A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707448A>G , CM000686.2:g.19707448A>G	GRCh38
NC_000024.9:g.21869334A>G , CM000686.1:g.21869334A>G	GRCh37
NC_000024.8:g.20328722A>G	NCBI36
NG_032920.1:g.42492T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3698T>C MANE Select	ENSP00000322408.4:p.Leu1233Pro
ENST00000317961.8:c.3698T>C	ENSP00000322408.4:p.Leu1233Pro
ENST00000382806.6:c.3527T>C	ENSP00000372256.2:p.Leu1176Pro
ENST00000415360.1:c.614T>C	ENSP00000389433.1:p.Leu205Pro
ENST00000440077.5:c.3575T>C	ENSP00000398543.1:p.Leu1192Pro
ENST00000469599.6:n.2296T>C
ENST00000492117.1:n.3590T>C
ENST00000541639.5:c.3791T>C	ENSP00000444293.1:p.Leu1264Pro
NM_001146705.1:c.3791T>C	NP_001140177.1:p.Leu1264Pro
NM_001146706.1:c.3527T>C	NP_001140178.1:p.Leu1176Pro
NM_004653.4:c.3698T>C	NP_004644.2:p.Leu1233Pro
XM_005262560.1:c.3563T>C	XP_005262617.1:p.Leu1188Pro
XM_005262561.1:c.3467T>C	XP_005262618.1:p.Leu1156Pro
XM_011531468.1:c.3620T>C	XP_011529770.1:p.Leu1207Pro
XR_244571.2:n.3986T>C
XR_430568.2:n.4320T>C
XM_005262560.3:c.3563T>C	XP_005262617.1:p.Leu1188Pro
XM_005262561.3:c.3467T>C	XP_005262618.1:p.Leu1156Pro
XM_011531468.3:c.3620T>C	XP_011529770.1:p.Leu1207Pro
XM_024452495.1:c.1688T>C	XP_024308263.1:p.Leu563Pro
XM_024452496.1:c.1454T>C	XP_024308264.1:p.Leu485Pro
XR_001756009.2:n.4436T>C
XR_001756010.2:n.4436T>C
XR_001756011.2:n.4301T>C
XR_001756012.2:n.4449T>C
XR_001756013.2:n.3767T>C
XR_002958832.1:n.3868T>C
XR_002958834.1:n.4092T>C
XR_002958835.1:n.3975T>C
XR_002958836.1:n.4658T>C
XR_002958837.1:n.4465T>C
XR_244571.4:n.3985T>C
XR_430568.4:n.4319T>C
NM_001146706.2:c.3527T>C	NP_001140178.1:p.Leu1176Pro
NM_004653.5:c.3698T>C MANE Select	NP_004644.2:p.Leu1233Pro
NM_001146705.2:c.3791T>C	NP_001140177.1:p.Leu1264Pro