Canonical Allele Identifier: CA414841968

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21868710G>C (hg19) ; chrY:g.19706824G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706824G>C , CM000686.2:g.19706824G>C	GRCh38
NC_000024.9:g.21868710G>C , CM000686.1:g.21868710G>C	GRCh37
NC_000024.8:g.20328098G>C	NCBI36
NG_032920.1:g.43116C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4039C>G MANE Select	ENSP00000322408.4:p.Pro1347Ala
ENST00000317961.8:c.4039C>G	ENSP00000322408.4:p.Pro1347Ala
ENST00000382806.6:c.3868C>G	ENSP00000372256.2:p.Pro1290Ala
ENST00000440077.5:c.3916C>G	ENSP00000398543.1:p.Pro1306Ala
ENST00000469599.6:n.2637C>G
ENST00000492117.1:n.3931C>G
ENST00000541639.5:c.4132C>G	ENSP00000444293.1:p.Pro1378Ala
NM_001146705.1:c.4132C>G	NP_001140177.1:p.Pro1378Ala
NM_001146706.1:c.3868C>G	NP_001140178.1:p.Pro1290Ala
NM_004653.4:c.4039C>G	NP_004644.2:p.Pro1347Ala
XM_005262560.1:c.3904C>G	XP_005262617.1:p.Pro1302Ala
XM_005262561.1:c.3808C>G	XP_005262618.1:p.Pro1270Ala
XM_011531468.1:c.3961C>G	XP_011529770.1:p.Pro1321Ala
XR_244571.2:n.4327C>G
XR_430568.2:n.4661C>G
XM_005262560.3:c.3904C>G	XP_005262617.1:p.Pro1302Ala
XM_005262561.3:c.3808C>G	XP_005262618.1:p.Pro1270Ala
XM_011531468.3:c.3961C>G	XP_011529770.1:p.Pro1321Ala
XM_024452495.1:c.2029C>G	XP_024308263.1:p.Pro677Ala
XM_024452496.1:c.1795C>G	XP_024308264.1:p.Pro599Ala
XR_001756009.2:n.4777C>G
XR_001756010.2:n.4777C>G
XR_001756011.2:n.4642C>G
XR_001756012.2:n.4790C>G
XR_001756013.2:n.4108C>G
XR_002958832.1:n.4209C>G
XR_002958834.1:n.4433C>G
XR_002958835.1:n.4316C>G
XR_002958836.1:n.4999C>G
XR_002958837.1:n.4806C>G
XR_244571.4:n.4326C>G
XR_430568.4:n.4660C>G
NM_001146706.2:c.3868C>G	NP_001140178.1:p.Pro1290Ala
NM_004653.5:c.4039C>G MANE Select	NP_004644.2:p.Pro1347Ala
NM_001146705.2:c.4132C>G	NP_001140177.1:p.Pro1378Ala