Canonical Allele Identifier: CA414844617

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869918T>G (hg19) ; chrY:g.19708032T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19708032T>G , CM000686.2:g.19708032T>G	GRCh38
NC_000024.9:g.21869918T>G , CM000686.1:g.21869918T>G	GRCh37
NC_000024.8:g.20329306T>G	NCBI36
NG_032920.1:g.41908A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3301A>C MANE Select	ENSP00000322408.4:p.Lys1101Gln
ENST00000317961.8:c.3301A>C	ENSP00000322408.4:p.Lys1101Gln
ENST00000382806.6:c.3130A>C	ENSP00000372256.2:p.Lys1044Gln
ENST00000415360.1:c.217A>C	ENSP00000389433.1:p.Lys73Gln
ENST00000440077.5:c.3178A>C	ENSP00000398543.1:p.Lys1060Gln
ENST00000469599.6:n.1899A>C
ENST00000492117.1:n.3193A>C
ENST00000541639.5:c.3394A>C	ENSP00000444293.1:p.Lys1132Gln
NM_001146705.1:c.3394A>C	NP_001140177.1:p.Lys1132Gln
NM_001146706.1:c.3130A>C	NP_001140178.1:p.Lys1044Gln
NM_004653.4:c.3301A>C	NP_004644.2:p.Lys1101Gln
XM_005262560.1:c.3166A>C	XP_005262617.1:p.Lys1056Gln
XM_005262561.1:c.3070A>C	XP_005262618.1:p.Lys1024Gln
XM_011531468.1:c.3223A>C	XP_011529770.1:p.Lys1075Gln
XR_244571.2:n.3589A>C
XR_430568.2:n.3923A>C
XM_005262560.3:c.3166A>C	XP_005262617.1:p.Lys1056Gln
XM_005262561.3:c.3070A>C	XP_005262618.1:p.Lys1024Gln
XM_011531468.3:c.3223A>C	XP_011529770.1:p.Lys1075Gln
XM_024452495.1:c.1291A>C	XP_024308263.1:p.Lys431Gln
XM_024452496.1:c.1057A>C	XP_024308264.1:p.Lys353Gln
XR_001756009.2:n.4039A>C
XR_001756010.2:n.4039A>C
XR_001756011.2:n.3904A>C
XR_001756012.2:n.4052A>C
XR_001756013.2:n.3370A>C
XR_002958832.1:n.3471A>C
XR_002958834.1:n.3695A>C
XR_002958835.1:n.3578A>C
XR_002958836.1:n.4261A>C
XR_002958837.1:n.4068A>C
XR_244571.4:n.3588A>C
XR_430568.4:n.3922A>C
NM_001146706.2:c.3130A>C	NP_001140178.1:p.Lys1044Gln
NM_004653.5:c.3301A>C MANE Select	NP_004644.2:p.Lys1101Gln
NM_001146705.2:c.3394A>C	NP_001140177.1:p.Lys1132Gln