Canonical Allele Identifier: CA414843310

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869371C>G (hg19) ; chrY:g.19707485C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707485C>G , CM000686.2:g.19707485C>G	GRCh38
NC_000024.9:g.21869371C>G , CM000686.1:g.21869371C>G	GRCh37
NC_000024.8:g.20328759C>G	NCBI36
NG_032920.1:g.42455G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3661G>C MANE Select	ENSP00000322408.4:p.Ala1221Pro
ENST00000317961.8:c.3661G>C	ENSP00000322408.4:p.Ala1221Pro
ENST00000382806.6:c.3490G>C	ENSP00000372256.2:p.Ala1164Pro
ENST00000415360.1:c.577G>C	ENSP00000389433.1:p.Ala193Pro
ENST00000440077.5:c.3538G>C	ENSP00000398543.1:p.Ala1180Pro
ENST00000469599.6:n.2259G>C
ENST00000492117.1:n.3553G>C
ENST00000541639.5:c.3754G>C	ENSP00000444293.1:p.Ala1252Pro
NM_001146705.1:c.3754G>C	NP_001140177.1:p.Ala1252Pro
NM_001146706.1:c.3490G>C	NP_001140178.1:p.Ala1164Pro
NM_004653.4:c.3661G>C	NP_004644.2:p.Ala1221Pro
XM_005262560.1:c.3526G>C	XP_005262617.1:p.Ala1176Pro
XM_005262561.1:c.3430G>C	XP_005262618.1:p.Ala1144Pro
XM_011531468.1:c.3583G>C	XP_011529770.1:p.Ala1195Pro
XR_244571.2:n.3949G>C
XR_430568.2:n.4283G>C
XM_005262560.3:c.3526G>C	XP_005262617.1:p.Ala1176Pro
XM_005262561.3:c.3430G>C	XP_005262618.1:p.Ala1144Pro
XM_011531468.3:c.3583G>C	XP_011529770.1:p.Ala1195Pro
XM_024452495.1:c.1651G>C	XP_024308263.1:p.Ala551Pro
XM_024452496.1:c.1417G>C	XP_024308264.1:p.Ala473Pro
XR_001756009.2:n.4399G>C
XR_001756010.2:n.4399G>C
XR_001756011.2:n.4264G>C
XR_001756012.2:n.4412G>C
XR_001756013.2:n.3730G>C
XR_002958832.1:n.3831G>C
XR_002958834.1:n.4055G>C
XR_002958835.1:n.3938G>C
XR_002958836.1:n.4621G>C
XR_002958837.1:n.4428G>C
XR_244571.4:n.3948G>C
XR_430568.4:n.4282G>C
NM_001146706.2:c.3490G>C	NP_001140178.1:p.Ala1164Pro
NM_004653.5:c.3661G>C MANE Select	NP_004644.2:p.Ala1221Pro
NM_001146705.2:c.3754G>C	NP_001140177.1:p.Ala1252Pro