Canonical Allele Identifier: CA414844703

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869936C>G (hg19) ; chrY:g.19708050C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19708050C>G , CM000686.2:g.19708050C>G	GRCh38
NC_000024.9:g.21869936C>G , CM000686.1:g.21869936C>G	GRCh37
NC_000024.8:g.20329324C>G	NCBI36
NG_032920.1:g.41890G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3283G>C MANE Select	ENSP00000322408.4:p.Ala1095Pro
ENST00000317961.8:c.3283G>C	ENSP00000322408.4:p.Ala1095Pro
ENST00000382806.6:c.3112G>C	ENSP00000372256.2:p.Ala1038Pro
ENST00000415360.1:c.199G>C	ENSP00000389433.1:p.Ala67Pro
ENST00000440077.5:c.3160G>C	ENSP00000398543.1:p.Ala1054Pro
ENST00000469599.6:n.1881G>C
ENST00000492117.1:n.3175G>C
ENST00000541639.5:c.3376G>C	ENSP00000444293.1:p.Ala1126Pro
NM_001146705.1:c.3376G>C	NP_001140177.1:p.Ala1126Pro
NM_001146706.1:c.3112G>C	NP_001140178.1:p.Ala1038Pro
NM_004653.4:c.3283G>C	NP_004644.2:p.Ala1095Pro
XM_005262560.1:c.3148G>C	XP_005262617.1:p.Ala1050Pro
XM_005262561.1:c.3052G>C	XP_005262618.1:p.Ala1018Pro
XM_011531468.1:c.3205G>C	XP_011529770.1:p.Ala1069Pro
XR_244571.2:n.3571G>C
XR_430568.2:n.3905G>C
XM_005262560.3:c.3148G>C	XP_005262617.1:p.Ala1050Pro
XM_005262561.3:c.3052G>C	XP_005262618.1:p.Ala1018Pro
XM_011531468.3:c.3205G>C	XP_011529770.1:p.Ala1069Pro
XM_024452495.1:c.1273G>C	XP_024308263.1:p.Ala425Pro
XM_024452496.1:c.1039G>C	XP_024308264.1:p.Ala347Pro
XR_001756009.2:n.4021G>C
XR_001756010.2:n.4021G>C
XR_001756011.2:n.3886G>C
XR_001756012.2:n.4034G>C
XR_001756013.2:n.3352G>C
XR_002958832.1:n.3453G>C
XR_002958834.1:n.3677G>C
XR_002958835.1:n.3560G>C
XR_002958836.1:n.4243G>C
XR_002958837.1:n.4050G>C
XR_244571.4:n.3570G>C
XR_430568.4:n.3904G>C
NM_001146706.2:c.3112G>C	NP_001140178.1:p.Ala1038Pro
NM_004653.5:c.3283G>C MANE Select	NP_004644.2:p.Ala1095Pro
NM_001146705.2:c.3376G>C	NP_001140177.1:p.Ala1126Pro