Canonical Allele Identifier: CA414840184

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21867999C>G (hg19) ; chrY:g.19706113C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706113C>G , CM000686.2:g.19706113C>G	GRCh38
NC_000024.9:g.21867999C>G , CM000686.1:g.21867999C>G	GRCh37
NC_000024.8:g.20327387C>G	NCBI36
NG_032920.1:g.43827G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4502G>C MANE Select	ENSP00000322408.4:p.Ser1501Thr
ENST00000317961.8:c.4502G>C	ENSP00000322408.4:p.Ser1501Thr
ENST00000382806.6:c.4331G>C	ENSP00000372256.2:p.Ser1444Thr
ENST00000440077.5:c.4379G>C	ENSP00000398543.1:p.Ser1460Thr
ENST00000469599.6:n.3253G>C
ENST00000492117.1:n.4547G>C
ENST00000541639.5:c.4595G>C	ENSP00000444293.1:p.Ser1532Thr
NM_001146705.1:c.4595G>C	NP_001140177.1:p.Ser1532Thr
NM_001146706.1:c.4331G>C	NP_001140178.1:p.Ser1444Thr
NM_004653.4:c.4502G>C	NP_004644.2:p.Ser1501Thr
XM_005262560.1:c.4367G>C	XP_005262617.1:p.Ser1456Thr
XM_005262561.1:c.4271G>C	XP_005262618.1:p.Ser1424Thr
XM_011531468.1:c.4424G>C	XP_011529770.1:p.Ser1475Thr
XR_430568.2:n.5277G>C
XM_005262560.3:c.4367G>C	XP_005262617.1:p.Ser1456Thr
XM_005262561.3:c.4271G>C	XP_005262618.1:p.Ser1424Thr
XM_011531468.3:c.4424G>C	XP_011529770.1:p.Ser1475Thr
XM_024452495.1:c.2492G>C	XP_024308263.1:p.Ser831Thr
XM_024452496.1:c.2258G>C	XP_024308264.1:p.Ser753Thr
XR_001756009.2:n.5240G>C
XR_001756010.2:n.5208G>C
XR_001756011.2:n.5105G>C
XR_001756012.2:n.5253G>C
XR_001756013.2:n.4571G>C
XR_002958832.1:n.4825G>C
XR_002958834.1:n.4896G>C
XR_002958835.1:n.4779G>C
XR_002958836.1:n.5430G>C
XR_002958837.1:n.5237G>C
XR_244571.4:n.4757G>C
XR_430568.4:n.5276G>C
NM_001146706.2:c.4331G>C	NP_001140178.1:p.Ser1444Thr
NM_004653.5:c.4502G>C MANE Select	NP_004644.2:p.Ser1501Thr
NM_001146705.2:c.4595G>C	NP_001140177.1:p.Ser1532Thr