Canonical Allele Identifier: CA414844044

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869574C>G (hg19) ; chrY:g.19707688C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707688C>G , CM000686.2:g.19707688C>G	GRCh38
NC_000024.9:g.21869574C>G , CM000686.1:g.21869574C>G	GRCh37
NC_000024.8:g.20328962C>G	NCBI36
NG_032920.1:g.42252G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3458G>C MANE Select	ENSP00000322408.4:p.Arg1153Pro
ENST00000317961.8:c.3458G>C	ENSP00000322408.4:p.Arg1153Pro
ENST00000382806.6:c.3287G>C	ENSP00000372256.2:p.Arg1096Pro
ENST00000415360.1:c.374G>C	ENSP00000389433.1:p.Arg125Pro
ENST00000440077.5:c.3335G>C	ENSP00000398543.1:p.Arg1112Pro
ENST00000469599.6:n.2056G>C
ENST00000492117.1:n.3350G>C
ENST00000541639.5:c.3551G>C	ENSP00000444293.1:p.Arg1184Pro
NM_001146705.1:c.3551G>C	NP_001140177.1:p.Arg1184Pro
NM_001146706.1:c.3287G>C	NP_001140178.1:p.Arg1096Pro
NM_004653.4:c.3458G>C	NP_004644.2:p.Arg1153Pro
XM_005262560.1:c.3323G>C	XP_005262617.1:p.Arg1108Pro
XM_005262561.1:c.3227G>C	XP_005262618.1:p.Arg1076Pro
XM_011531468.1:c.3380G>C	XP_011529770.1:p.Arg1127Pro
XR_244571.2:n.3746G>C
XR_430568.2:n.4080G>C
XM_005262560.3:c.3323G>C	XP_005262617.1:p.Arg1108Pro
XM_005262561.3:c.3227G>C	XP_005262618.1:p.Arg1076Pro
XM_011531468.3:c.3380G>C	XP_011529770.1:p.Arg1127Pro
XM_024452495.1:c.1448G>C	XP_024308263.1:p.Arg483Pro
XM_024452496.1:c.1214G>C	XP_024308264.1:p.Arg405Pro
XR_001756009.2:n.4196G>C
XR_001756010.2:n.4196G>C
XR_001756011.2:n.4061G>C
XR_001756012.2:n.4209G>C
XR_001756013.2:n.3527G>C
XR_002958832.1:n.3628G>C
XR_002958834.1:n.3852G>C
XR_002958835.1:n.3735G>C
XR_002958836.1:n.4418G>C
XR_002958837.1:n.4225G>C
XR_244571.4:n.3745G>C
XR_430568.4:n.4079G>C
NM_001146706.2:c.3287G>C	NP_001140178.1:p.Arg1096Pro
NM_004653.5:c.3458G>C MANE Select	NP_004644.2:p.Arg1153Pro
NM_001146705.2:c.3551G>C	NP_001140177.1:p.Arg1184Pro