Canonical Allele Identifier: CA414844490

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869894C>T (hg19) ; chrY:g.19708008C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19708008C>T , CM000686.2:g.19708008C>T	GRCh38
NC_000024.9:g.21869894C>T , CM000686.1:g.21869894C>T	GRCh37
NC_000024.8:g.20329282C>T	NCBI36
NG_032920.1:g.41932G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3325G>A MANE Select	ENSP00000322408.4:p.Ala1109Thr
ENST00000317961.8:c.3325G>A	ENSP00000322408.4:p.Ala1109Thr
ENST00000382806.6:c.3154G>A	ENSP00000372256.2:p.Ala1052Thr
ENST00000415360.1:c.241G>A	ENSP00000389433.1:p.Ala81Thr
ENST00000440077.5:c.3202G>A	ENSP00000398543.1:p.Ala1068Thr
ENST00000469599.6:n.1923G>A
ENST00000492117.1:n.3217G>A
ENST00000541639.5:c.3418G>A	ENSP00000444293.1:p.Ala1140Thr
NM_001146705.1:c.3418G>A	NP_001140177.1:p.Ala1140Thr
NM_001146706.1:c.3154G>A	NP_001140178.1:p.Ala1052Thr
NM_004653.4:c.3325G>A	NP_004644.2:p.Ala1109Thr
XM_005262560.1:c.3190G>A	XP_005262617.1:p.Ala1064Thr
XM_005262561.1:c.3094G>A	XP_005262618.1:p.Ala1032Thr
XM_011531468.1:c.3247G>A	XP_011529770.1:p.Ala1083Thr
XR_244571.2:n.3613G>A
XR_430568.2:n.3947G>A
XM_005262560.3:c.3190G>A	XP_005262617.1:p.Ala1064Thr
XM_005262561.3:c.3094G>A	XP_005262618.1:p.Ala1032Thr
XM_011531468.3:c.3247G>A	XP_011529770.1:p.Ala1083Thr
XM_024452495.1:c.1315G>A	XP_024308263.1:p.Ala439Thr
XM_024452496.1:c.1081G>A	XP_024308264.1:p.Ala361Thr
XR_001756009.2:n.4063G>A
XR_001756010.2:n.4063G>A
XR_001756011.2:n.3928G>A
XR_001756012.2:n.4076G>A
XR_001756013.2:n.3394G>A
XR_002958832.1:n.3495G>A
XR_002958834.1:n.3719G>A
XR_002958835.1:n.3602G>A
XR_002958836.1:n.4285G>A
XR_002958837.1:n.4092G>A
XR_244571.4:n.3612G>A
XR_430568.4:n.3946G>A
NM_001146706.2:c.3154G>A	NP_001140178.1:p.Ala1052Thr
NM_004653.5:c.3325G>A MANE Select	NP_004644.2:p.Ala1109Thr
NM_001146705.2:c.3418G>A	NP_001140177.1:p.Ala1140Thr