Canonical Allele Identifier: CA414844397

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869870T>C (hg19) ; chrY:g.19707984T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707984T>C , CM000686.2:g.19707984T>C	GRCh38
NC_000024.9:g.21869870T>C , CM000686.1:g.21869870T>C	GRCh37
NC_000024.8:g.20329258T>C	NCBI36
NG_032920.1:g.41956A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000317961.9:c.3349A>G MANE Select	ENSP00000322408.4:p.Thr1117Ala
ENST00000317961.8:c.3349A>G	ENSP00000322408.4:p.Thr1117Ala
ENST00000382806.6:c.3178A>G	ENSP00000372256.2:p.Thr1060Ala
ENST00000415360.1:c.265A>G	ENSP00000389433.1:p.Thr89Ala
ENST00000440077.5:c.3226A>G	ENSP00000398543.1:p.Thr1076Ala
ENST00000469599.6:n.1947A>G
ENST00000492117.1:n.3241A>G
ENST00000541639.5:c.3442A>G	ENSP00000444293.1:p.Thr1148Ala
NM_001146705.1:c.3442A>G	NP_001140177.1:p.Thr1148Ala
NM_001146706.1:c.3178A>G	NP_001140178.1:p.Thr1060Ala
NM_004653.4:c.3349A>G	NP_004644.2:p.Thr1117Ala
XM_005262560.1:c.3214A>G	XP_005262617.1:p.Thr1072Ala
XM_005262561.1:c.3118A>G	XP_005262618.1:p.Thr1040Ala
XM_011531468.1:c.3271A>G	XP_011529770.1:p.Thr1091Ala
XR_244571.2:n.3637A>G
XR_430568.2:n.3971A>G
XM_005262560.3:c.3214A>G	XP_005262617.1:p.Thr1072Ala
XM_005262561.3:c.3118A>G	XP_005262618.1:p.Thr1040Ala
XM_011531468.3:c.3271A>G	XP_011529770.1:p.Thr1091Ala
XM_024452495.1:c.1339A>G	XP_024308263.1:p.Thr447Ala
XM_024452496.1:c.1105A>G	XP_024308264.1:p.Thr369Ala
XR_001756009.2:n.4087A>G
XR_001756010.2:n.4087A>G
XR_001756011.2:n.3952A>G
XR_001756012.2:n.4100A>G
XR_001756013.2:n.3418A>G
XR_002958832.1:n.3519A>G
XR_002958834.1:n.3743A>G
XR_002958835.1:n.3626A>G
XR_002958836.1:n.4309A>G
XR_002958837.1:n.4116A>G
XR_244571.4:n.3636A>G
XR_430568.4:n.3970A>G
NM_001146706.2:c.3178A>G	NP_001140178.1:p.Thr1060Ala
NM_004653.5:c.3349A>G MANE Select	NP_004644.2:p.Thr1117Ala
NM_001146705.2:c.3442A>G	NP_001140177.1:p.Thr1148Ala