Canonical Allele Identifier: CA414841888

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21868689T>G (hg19) ; chrY:g.19706803T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706803T>G , CM000686.2:g.19706803T>G	GRCh38
NC_000024.9:g.21868689T>G , CM000686.1:g.21868689T>G	GRCh37
NC_000024.8:g.20328077T>G	NCBI36
NG_032920.1:g.43137A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4060A>C MANE Select	ENSP00000322408.4:p.Lys1354Gln
ENST00000317961.8:c.4060A>C	ENSP00000322408.4:p.Lys1354Gln
ENST00000382806.6:c.3889A>C	ENSP00000372256.2:p.Lys1297Gln
ENST00000440077.5:c.3937A>C	ENSP00000398543.1:p.Lys1313Gln
ENST00000469599.6:n.2658A>C
ENST00000492117.1:n.3952A>C
ENST00000541639.5:c.4153A>C	ENSP00000444293.1:p.Lys1385Gln
NM_001146705.1:c.4153A>C	NP_001140177.1:p.Lys1385Gln
NM_001146706.1:c.3889A>C	NP_001140178.1:p.Lys1297Gln
NM_004653.4:c.4060A>C	NP_004644.2:p.Lys1354Gln
XM_005262560.1:c.3925A>C	XP_005262617.1:p.Lys1309Gln
XM_005262561.1:c.3829A>C	XP_005262618.1:p.Lys1277Gln
XM_011531468.1:c.3982A>C	XP_011529770.1:p.Lys1328Gln
XR_244571.2:n.4348A>C
XR_430568.2:n.4682A>C
XM_005262560.3:c.3925A>C	XP_005262617.1:p.Lys1309Gln
XM_005262561.3:c.3829A>C	XP_005262618.1:p.Lys1277Gln
XM_011531468.3:c.3982A>C	XP_011529770.1:p.Lys1328Gln
XM_024452495.1:c.2050A>C	XP_024308263.1:p.Lys684Gln
XM_024452496.1:c.1816A>C	XP_024308264.1:p.Lys606Gln
XR_001756009.2:n.4798A>C
XR_001756010.2:n.4798A>C
XR_001756011.2:n.4663A>C
XR_001756012.2:n.4811A>C
XR_001756013.2:n.4129A>C
XR_002958832.1:n.4230A>C
XR_002958834.1:n.4454A>C
XR_002958835.1:n.4337A>C
XR_002958836.1:n.5020A>C
XR_002958837.1:n.4827A>C
XR_244571.4:n.4347A>C
XR_430568.4:n.4681A>C
NM_001146706.2:c.3889A>C	NP_001140178.1:p.Lys1297Gln
NM_004653.5:c.4060A>C MANE Select	NP_004644.2:p.Lys1354Gln
NM_001146705.2:c.4153A>C	NP_001140177.1:p.Lys1385Gln