Canonical Allele Identifier: CA414843553

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869441A>T (hg19) ; chrY:g.19707555A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707555A>T , CM000686.2:g.19707555A>T	GRCh38
NC_000024.9:g.21869441A>T , CM000686.1:g.21869441A>T	GRCh37
NC_000024.8:g.20328829A>T	NCBI36
NG_032920.1:g.42385T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3591T>A MANE Select	ENSP00000322408.4:p.His1197Gln
ENST00000317961.8:c.3591T>A	ENSP00000322408.4:p.His1197Gln
ENST00000382806.6:c.3420T>A	ENSP00000372256.2:p.His1140Gln
ENST00000415360.1:c.507T>A	ENSP00000389433.1:p.His169Gln
ENST00000440077.5:c.3468T>A	ENSP00000398543.1:p.His1156Gln
ENST00000469599.6:n.2189T>A
ENST00000492117.1:n.3483T>A
ENST00000541639.5:c.3684T>A	ENSP00000444293.1:p.His1228Gln
NM_001146705.1:c.3684T>A	NP_001140177.1:p.His1228Gln
NM_001146706.1:c.3420T>A	NP_001140178.1:p.His1140Gln
NM_004653.4:c.3591T>A	NP_004644.2:p.His1197Gln
XM_005262560.1:c.3456T>A	XP_005262617.1:p.His1152Gln
XM_005262561.1:c.3360T>A	XP_005262618.1:p.His1120Gln
XM_011531468.1:c.3513T>A	XP_011529770.1:p.His1171Gln
XR_244571.2:n.3879T>A
XR_430568.2:n.4213T>A
XM_005262560.3:c.3456T>A	XP_005262617.1:p.His1152Gln
XM_005262561.3:c.3360T>A	XP_005262618.1:p.His1120Gln
XM_011531468.3:c.3513T>A	XP_011529770.1:p.His1171Gln
XM_024452495.1:c.1581T>A	XP_024308263.1:p.His527Gln
XM_024452496.1:c.1347T>A	XP_024308264.1:p.His449Gln
XR_001756009.2:n.4329T>A
XR_001756010.2:n.4329T>A
XR_001756011.2:n.4194T>A
XR_001756012.2:n.4342T>A
XR_001756013.2:n.3660T>A
XR_002958832.1:n.3761T>A
XR_002958834.1:n.3985T>A
XR_002958835.1:n.3868T>A
XR_002958836.1:n.4551T>A
XR_002958837.1:n.4358T>A
XR_244571.4:n.3878T>A
XR_430568.4:n.4212T>A
NM_001146706.2:c.3420T>A	NP_001140178.1:p.His1140Gln
NM_004653.5:c.3591T>A MANE Select	NP_004644.2:p.His1197Gln
NM_001146705.2:c.3684T>A	NP_001140177.1:p.His1228Gln