Canonical Allele Identifier: CA414840080

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21867973T>G (hg19) ; chrY:g.19706087T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706087T>G , CM000686.2:g.19706087T>G	GRCh38
NC_000024.9:g.21867973T>G , CM000686.1:g.21867973T>G	GRCh37
NC_000024.8:g.20327361T>G	NCBI36
NG_032920.1:g.43853A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4528A>C MANE Select	ENSP00000322408.4:p.Ser1510Arg
ENST00000317961.8:c.4528A>C	ENSP00000322408.4:p.Ser1510Arg
ENST00000382806.6:c.4357A>C	ENSP00000372256.2:p.Ser1453Arg
ENST00000440077.5:c.4405A>C	ENSP00000398543.1:p.Ser1469Arg
ENST00000469599.6:n.3279A>C
ENST00000492117.1:n.4573A>C
ENST00000541639.5:c.4621A>C	ENSP00000444293.1:p.Ser1541Arg
NM_001146705.1:c.4621A>C	NP_001140177.1:p.Ser1541Arg
NM_001146706.1:c.4357A>C	NP_001140178.1:p.Ser1453Arg
NM_004653.4:c.4528A>C	NP_004644.2:p.Ser1510Arg
XM_005262560.1:c.4393A>C	XP_005262617.1:p.Ser1465Arg
XM_005262561.1:c.4297A>C	XP_005262618.1:p.Ser1433Arg
XM_011531468.1:c.4450A>C	XP_011529770.1:p.Ser1484Arg
XR_430568.2:n.5303A>C
XM_005262560.3:c.4393A>C	XP_005262617.1:p.Ser1465Arg
XM_005262561.3:c.4297A>C	XP_005262618.1:p.Ser1433Arg
XM_011531468.3:c.4450A>C	XP_011529770.1:p.Ser1484Arg
XM_024452495.1:c.2518A>C	XP_024308263.1:p.Ser840Arg
XM_024452496.1:c.2284A>C	XP_024308264.1:p.Ser762Arg
XR_001756009.2:n.5266A>C
XR_001756010.2:n.5234A>C
XR_001756011.2:n.5131A>C
XR_001756012.2:n.5279A>C
XR_001756013.2:n.4597A>C
XR_002958832.1:n.4851A>C
XR_002958834.1:n.4922A>C
XR_002958835.1:n.4805A>C
XR_002958836.1:n.5456A>C
XR_002958837.1:n.5263A>C
XR_244571.4:n.4783A>C
XR_430568.4:n.5302A>C
NM_001146706.2:c.4357A>C	NP_001140178.1:p.Ser1453Arg
NM_004653.5:c.4528A>C MANE Select	NP_004644.2:p.Ser1510Arg
NM_001146705.2:c.4621A>C	NP_001140177.1:p.Ser1541Arg