Canonical Allele Identifier: CA414843503

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869428A>C (hg19) ; chrY:g.19707542A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707542A>C , CM000686.2:g.19707542A>C	GRCh38
NC_000024.9:g.21869428A>C , CM000686.1:g.21869428A>C	GRCh37
NC_000024.8:g.20328816A>C	NCBI36
NG_032920.1:g.42398T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3604T>G MANE Select	ENSP00000322408.4:p.Ser1202Ala
ENST00000317961.8:c.3604T>G	ENSP00000322408.4:p.Ser1202Ala
ENST00000382806.6:c.3433T>G	ENSP00000372256.2:p.Ser1145Ala
ENST00000415360.1:c.520T>G	ENSP00000389433.1:p.Ser174Ala
ENST00000440077.5:c.3481T>G	ENSP00000398543.1:p.Ser1161Ala
ENST00000469599.6:n.2202T>G
ENST00000492117.1:n.3496T>G
ENST00000541639.5:c.3697T>G	ENSP00000444293.1:p.Ser1233Ala
NM_001146705.1:c.3697T>G	NP_001140177.1:p.Ser1233Ala
NM_001146706.1:c.3433T>G	NP_001140178.1:p.Ser1145Ala
NM_004653.4:c.3604T>G	NP_004644.2:p.Ser1202Ala
XM_005262560.1:c.3469T>G	XP_005262617.1:p.Ser1157Ala
XM_005262561.1:c.3373T>G	XP_005262618.1:p.Ser1125Ala
XM_011531468.1:c.3526T>G	XP_011529770.1:p.Ser1176Ala
XR_244571.2:n.3892T>G
XR_430568.2:n.4226T>G
XM_005262560.3:c.3469T>G	XP_005262617.1:p.Ser1157Ala
XM_005262561.3:c.3373T>G	XP_005262618.1:p.Ser1125Ala
XM_011531468.3:c.3526T>G	XP_011529770.1:p.Ser1176Ala
XM_024452495.1:c.1594T>G	XP_024308263.1:p.Ser532Ala
XM_024452496.1:c.1360T>G	XP_024308264.1:p.Ser454Ala
XR_001756009.2:n.4342T>G
XR_001756010.2:n.4342T>G
XR_001756011.2:n.4207T>G
XR_001756012.2:n.4355T>G
XR_001756013.2:n.3673T>G
XR_002958832.1:n.3774T>G
XR_002958834.1:n.3998T>G
XR_002958835.1:n.3881T>G
XR_002958836.1:n.4564T>G
XR_002958837.1:n.4371T>G
XR_244571.4:n.3891T>G
XR_430568.4:n.4225T>G
NM_001146706.2:c.3433T>G	NP_001140178.1:p.Ser1145Ala
NM_004653.5:c.3604T>G MANE Select	NP_004644.2:p.Ser1202Ala
NM_001146705.2:c.3697T>G	NP_001140177.1:p.Ser1233Ala