Canonical Allele Identifier: CA414843826

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869511A>G (hg19) ; chrY:g.19707625A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707625A>G , CM000686.2:g.19707625A>G	GRCh38
NC_000024.9:g.21869511A>G , CM000686.1:g.21869511A>G	GRCh37
NC_000024.8:g.20328899A>G	NCBI36
NG_032920.1:g.42315T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3521T>C MANE Select	ENSP00000322408.4:p.Ile1174Thr
ENST00000317961.8:c.3521T>C	ENSP00000322408.4:p.Ile1174Thr
ENST00000382806.6:c.3350T>C	ENSP00000372256.2:p.Ile1117Thr
ENST00000415360.1:c.437T>C	ENSP00000389433.1:p.Ile146Thr
ENST00000440077.5:c.3398T>C	ENSP00000398543.1:p.Ile1133Thr
ENST00000469599.6:n.2119T>C
ENST00000492117.1:n.3413T>C
ENST00000541639.5:c.3614T>C	ENSP00000444293.1:p.Ile1205Thr
NM_001146705.1:c.3614T>C	NP_001140177.1:p.Ile1205Thr
NM_001146706.1:c.3350T>C	NP_001140178.1:p.Ile1117Thr
NM_004653.4:c.3521T>C	NP_004644.2:p.Ile1174Thr
XM_005262560.1:c.3386T>C	XP_005262617.1:p.Ile1129Thr
XM_005262561.1:c.3290T>C	XP_005262618.1:p.Ile1097Thr
XM_011531468.1:c.3443T>C	XP_011529770.1:p.Ile1148Thr
XR_244571.2:n.3809T>C
XR_430568.2:n.4143T>C
XM_005262560.3:c.3386T>C	XP_005262617.1:p.Ile1129Thr
XM_005262561.3:c.3290T>C	XP_005262618.1:p.Ile1097Thr
XM_011531468.3:c.3443T>C	XP_011529770.1:p.Ile1148Thr
XM_024452495.1:c.1511T>C	XP_024308263.1:p.Ile504Thr
XM_024452496.1:c.1277T>C	XP_024308264.1:p.Ile426Thr
XR_001756009.2:n.4259T>C
XR_001756010.2:n.4259T>C
XR_001756011.2:n.4124T>C
XR_001756012.2:n.4272T>C
XR_001756013.2:n.3590T>C
XR_002958832.1:n.3691T>C
XR_002958834.1:n.3915T>C
XR_002958835.1:n.3798T>C
XR_002958836.1:n.4481T>C
XR_002958837.1:n.4288T>C
XR_244571.4:n.3808T>C
XR_430568.4:n.4142T>C
NM_001146706.2:c.3350T>C	NP_001140178.1:p.Ile1117Thr
NM_004653.5:c.3521T>C MANE Select	NP_004644.2:p.Ile1174Thr
NM_001146705.2:c.3614T>C	NP_001140177.1:p.Ile1205Thr