Canonical Allele Identifier: CA414840233

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21868012A>C (hg19) ; chrY:g.19706126A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706126A>C , CM000686.2:g.19706126A>C	GRCh38
NC_000024.9:g.21868012A>C , CM000686.1:g.21868012A>C	GRCh37
NC_000024.8:g.20327400A>C	NCBI36
NG_032920.1:g.43814T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4489T>G MANE Select	ENSP00000322408.4:p.Ser1497Ala
ENST00000317961.8:c.4489T>G	ENSP00000322408.4:p.Ser1497Ala
ENST00000382806.6:c.4318T>G	ENSP00000372256.2:p.Ser1440Ala
ENST00000440077.5:c.4366T>G	ENSP00000398543.1:p.Ser1456Ala
ENST00000469599.6:n.3240T>G
ENST00000492117.1:n.4534T>G
ENST00000541639.5:c.4582T>G	ENSP00000444293.1:p.Ser1528Ala
NM_001146705.1:c.4582T>G	NP_001140177.1:p.Ser1528Ala
NM_001146706.1:c.4318T>G	NP_001140178.1:p.Ser1440Ala
NM_004653.4:c.4489T>G	NP_004644.2:p.Ser1497Ala
XM_005262560.1:c.4354T>G	XP_005262617.1:p.Ser1452Ala
XM_005262561.1:c.4258T>G	XP_005262618.1:p.Ser1420Ala
XM_011531468.1:c.4411T>G	XP_011529770.1:p.Ser1471Ala
XR_430568.2:n.5264T>G
XM_005262560.3:c.4354T>G	XP_005262617.1:p.Ser1452Ala
XM_005262561.3:c.4258T>G	XP_005262618.1:p.Ser1420Ala
XM_011531468.3:c.4411T>G	XP_011529770.1:p.Ser1471Ala
XM_024452495.1:c.2479T>G	XP_024308263.1:p.Ser827Ala
XM_024452496.1:c.2245T>G	XP_024308264.1:p.Ser749Ala
XR_001756009.2:n.5227T>G
XR_001756010.2:n.5195T>G
XR_001756011.2:n.5092T>G
XR_001756012.2:n.5240T>G
XR_001756013.2:n.4558T>G
XR_002958832.1:n.4812T>G
XR_002958834.1:n.4883T>G
XR_002958835.1:n.4766T>G
XR_002958836.1:n.5417T>G
XR_002958837.1:n.5224T>G
XR_244571.4:n.4744T>G
XR_430568.4:n.5263T>G
NM_001146706.2:c.4318T>G	NP_001140178.1:p.Ser1440Ala
NM_004653.5:c.4489T>G MANE Select	NP_004644.2:p.Ser1497Ala
NM_001146705.2:c.4582T>G	NP_001140177.1:p.Ser1528Ala