Canonical Allele Identifier: CA414839750

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21867888T>G (hg19) ; chrY:g.19706002T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706002T>G , CM000686.2:g.19706002T>G	GRCh38
NC_000024.9:g.21867888T>G , CM000686.1:g.21867888T>G	GRCh37
NC_000024.8:g.20327276T>G	NCBI36
NG_032920.1:g.43938A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4613A>C MANE Select	ENSP00000322408.4:p.Gln1538Pro
ENST00000317961.8:c.4613A>C	ENSP00000322408.4:p.Gln1538Pro
ENST00000382806.6:c.4442A>C	ENSP00000372256.2:p.Gln1481Pro
ENST00000469599.6:n.3364A>C
ENST00000492117.1:n.4658A>C
ENST00000541639.5:c.4706A>C	ENSP00000444293.1:p.Gln1569Pro
NM_001146705.1:c.4706A>C	NP_001140177.1:p.Gln1569Pro
NM_001146706.1:c.4442A>C	NP_001140178.1:p.Gln1481Pro
NM_004653.4:c.4613A>C	NP_004644.2:p.Gln1538Pro
XM_005262560.1:c.4478A>C	XP_005262617.1:p.Gln1493Pro
XM_005262561.1:c.4382A>C	XP_005262618.1:p.Gln1461Pro
XM_011531468.1:c.4535A>C	XP_011529770.1:p.Gln1512Pro
XR_430568.2:n.5388A>C
XM_005262560.3:c.4478A>C	XP_005262617.1:p.Gln1493Pro
XM_005262561.3:c.4382A>C	XP_005262618.1:p.Gln1461Pro
XM_011531468.3:c.4535A>C	XP_011529770.1:p.Gln1512Pro
XM_024452495.1:c.2603A>C	XP_024308263.1:p.Gln868Pro
XM_024452496.1:c.2369A>C	XP_024308264.1:p.Gln790Pro
XR_001756009.2:n.5351A>C
XR_001756010.2:n.5319A>C
XR_001756011.2:n.5216A>C
XR_001756012.2:n.5364A>C
XR_001756013.2:n.4682A>C
XR_002958832.1:n.4936A>C
XR_002958834.1:n.5007A>C
XR_002958835.1:n.4890A>C
XR_002958836.1:n.5541A>C
XR_002958837.1:n.5348A>C
XR_244571.4:n.4868A>C
XR_430568.4:n.5387A>C
NM_001146706.2:c.4442A>C	NP_001140178.1:p.Gln1481Pro
NM_004653.5:c.4613A>C MANE Select	NP_004644.2:p.Gln1538Pro
NM_001146705.2:c.4706A>C	NP_001140177.1:p.Gln1569Pro