Canonical Allele Identifier: CA414843427

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869407A>G (hg19) ; chrY:g.19707521A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707521A>G , CM000686.2:g.19707521A>G	GRCh38
NC_000024.9:g.21869407A>G , CM000686.1:g.21869407A>G	GRCh37
NC_000024.8:g.20328795A>G	NCBI36
NG_032920.1:g.42419T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3625T>C MANE Select	ENSP00000322408.4:p.Ser1209Pro
ENST00000317961.8:c.3625T>C	ENSP00000322408.4:p.Ser1209Pro
ENST00000382806.6:c.3454T>C	ENSP00000372256.2:p.Ser1152Pro
ENST00000415360.1:c.541T>C	ENSP00000389433.1:p.Ser181Pro
ENST00000440077.5:c.3502T>C	ENSP00000398543.1:p.Ser1168Pro
ENST00000469599.6:n.2223T>C
ENST00000492117.1:n.3517T>C
ENST00000541639.5:c.3718T>C	ENSP00000444293.1:p.Ser1240Pro
NM_001146705.1:c.3718T>C	NP_001140177.1:p.Ser1240Pro
NM_001146706.1:c.3454T>C	NP_001140178.1:p.Ser1152Pro
NM_004653.4:c.3625T>C	NP_004644.2:p.Ser1209Pro
XM_005262560.1:c.3490T>C	XP_005262617.1:p.Ser1164Pro
XM_005262561.1:c.3394T>C	XP_005262618.1:p.Ser1132Pro
XM_011531468.1:c.3547T>C	XP_011529770.1:p.Ser1183Pro
XR_244571.2:n.3913T>C
XR_430568.2:n.4247T>C
XM_005262560.3:c.3490T>C	XP_005262617.1:p.Ser1164Pro
XM_005262561.3:c.3394T>C	XP_005262618.1:p.Ser1132Pro
XM_011531468.3:c.3547T>C	XP_011529770.1:p.Ser1183Pro
XM_024452495.1:c.1615T>C	XP_024308263.1:p.Ser539Pro
XM_024452496.1:c.1381T>C	XP_024308264.1:p.Ser461Pro
XR_001756009.2:n.4363T>C
XR_001756010.2:n.4363T>C
XR_001756011.2:n.4228T>C
XR_001756012.2:n.4376T>C
XR_001756013.2:n.3694T>C
XR_002958832.1:n.3795T>C
XR_002958834.1:n.4019T>C
XR_002958835.1:n.3902T>C
XR_002958836.1:n.4585T>C
XR_002958837.1:n.4392T>C
XR_244571.4:n.3912T>C
XR_430568.4:n.4246T>C
NM_001146706.2:c.3454T>C	NP_001140178.1:p.Ser1152Pro
NM_004653.5:c.3625T>C MANE Select	NP_004644.2:p.Ser1209Pro
NM_001146705.2:c.3718T>C	NP_001140177.1:p.Ser1240Pro