Canonical Allele Identifier: CA414843443

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869410T>G (hg19) ; chrY:g.19707524T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707524T>G , CM000686.2:g.19707524T>G	GRCh38
NC_000024.9:g.21869410T>G , CM000686.1:g.21869410T>G	GRCh37
NC_000024.8:g.20328798T>G	NCBI36
NG_032920.1:g.42416A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3622A>C MANE Select	ENSP00000322408.4:p.Thr1208Pro
ENST00000317961.8:c.3622A>C	ENSP00000322408.4:p.Thr1208Pro
ENST00000382806.6:c.3451A>C	ENSP00000372256.2:p.Thr1151Pro
ENST00000415360.1:c.538A>C	ENSP00000389433.1:p.Thr180Pro
ENST00000440077.5:c.3499A>C	ENSP00000398543.1:p.Thr1167Pro
ENST00000469599.6:n.2220A>C
ENST00000492117.1:n.3514A>C
ENST00000541639.5:c.3715A>C	ENSP00000444293.1:p.Thr1239Pro
NM_001146705.1:c.3715A>C	NP_001140177.1:p.Thr1239Pro
NM_001146706.1:c.3451A>C	NP_001140178.1:p.Thr1151Pro
NM_004653.4:c.3622A>C	NP_004644.2:p.Thr1208Pro
XM_005262560.1:c.3487A>C	XP_005262617.1:p.Thr1163Pro
XM_005262561.1:c.3391A>C	XP_005262618.1:p.Thr1131Pro
XM_011531468.1:c.3544A>C	XP_011529770.1:p.Thr1182Pro
XR_244571.2:n.3910A>C
XR_430568.2:n.4244A>C
XM_005262560.3:c.3487A>C	XP_005262617.1:p.Thr1163Pro
XM_005262561.3:c.3391A>C	XP_005262618.1:p.Thr1131Pro
XM_011531468.3:c.3544A>C	XP_011529770.1:p.Thr1182Pro
XM_024452495.1:c.1612A>C	XP_024308263.1:p.Thr538Pro
XM_024452496.1:c.1378A>C	XP_024308264.1:p.Thr460Pro
XR_001756009.2:n.4360A>C
XR_001756010.2:n.4360A>C
XR_001756011.2:n.4225A>C
XR_001756012.2:n.4373A>C
XR_001756013.2:n.3691A>C
XR_002958832.1:n.3792A>C
XR_002958834.1:n.4016A>C
XR_002958835.1:n.3899A>C
XR_002958836.1:n.4582A>C
XR_002958837.1:n.4389A>C
XR_244571.4:n.3909A>C
XR_430568.4:n.4243A>C
NM_001146706.2:c.3451A>C	NP_001140178.1:p.Thr1151Pro
NM_004653.5:c.3622A>C MANE Select	NP_004644.2:p.Thr1208Pro
NM_001146705.2:c.3715A>C	NP_001140177.1:p.Thr1239Pro