Canonical Allele Identifier: CA414844431

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869878T>G (hg19) ; chrY:g.19707992T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707992T>G , CM000686.2:g.19707992T>G	GRCh38
NC_000024.9:g.21869878T>G , CM000686.1:g.21869878T>G	GRCh37
NC_000024.8:g.20329266T>G	NCBI36
NG_032920.1:g.41948A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3341A>C MANE Select	ENSP00000322408.4:p.Gln1114Pro
ENST00000317961.8:c.3341A>C	ENSP00000322408.4:p.Gln1114Pro
ENST00000382806.6:c.3170A>C	ENSP00000372256.2:p.Gln1057Pro
ENST00000415360.1:c.257A>C	ENSP00000389433.1:p.Gln86Pro
ENST00000440077.5:c.3218A>C	ENSP00000398543.1:p.Gln1073Pro
ENST00000469599.6:n.1939A>C
ENST00000492117.1:n.3233A>C
ENST00000541639.5:c.3434A>C	ENSP00000444293.1:p.Gln1145Pro
NM_001146705.1:c.3434A>C	NP_001140177.1:p.Gln1145Pro
NM_001146706.1:c.3170A>C	NP_001140178.1:p.Gln1057Pro
NM_004653.4:c.3341A>C	NP_004644.2:p.Gln1114Pro
XM_005262560.1:c.3206A>C	XP_005262617.1:p.Gln1069Pro
XM_005262561.1:c.3110A>C	XP_005262618.1:p.Gln1037Pro
XM_011531468.1:c.3263A>C	XP_011529770.1:p.Gln1088Pro
XR_244571.2:n.3629A>C
XR_430568.2:n.3963A>C
XM_005262560.3:c.3206A>C	XP_005262617.1:p.Gln1069Pro
XM_005262561.3:c.3110A>C	XP_005262618.1:p.Gln1037Pro
XM_011531468.3:c.3263A>C	XP_011529770.1:p.Gln1088Pro
XM_024452495.1:c.1331A>C	XP_024308263.1:p.Gln444Pro
XM_024452496.1:c.1097A>C	XP_024308264.1:p.Gln366Pro
XR_001756009.2:n.4079A>C
XR_001756010.2:n.4079A>C
XR_001756011.2:n.3944A>C
XR_001756012.2:n.4092A>C
XR_001756013.2:n.3410A>C
XR_002958832.1:n.3511A>C
XR_002958834.1:n.3735A>C
XR_002958835.1:n.3618A>C
XR_002958836.1:n.4301A>C
XR_002958837.1:n.4108A>C
XR_244571.4:n.3628A>C
XR_430568.4:n.3962A>C
NM_001146706.2:c.3170A>C	NP_001140178.1:p.Gln1057Pro
NM_004653.5:c.3341A>C MANE Select	NP_004644.2:p.Gln1114Pro
NM_001146705.2:c.3434A>C	NP_001140177.1:p.Gln1145Pro