Canonical Allele Identifier: CA414844721

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869939C>G (hg19) ; chrY:g.19708053C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19708053C>G , CM000686.2:g.19708053C>G	GRCh38
NC_000024.9:g.21869939C>G , CM000686.1:g.21869939C>G	GRCh37
NC_000024.8:g.20329327C>G	NCBI36
NG_032920.1:g.41887G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3280G>C MANE Select	ENSP00000322408.4:p.Asp1094His
ENST00000317961.8:c.3280G>C	ENSP00000322408.4:p.Asp1094His
ENST00000382806.6:c.3109G>C	ENSP00000372256.2:p.Asp1037His
ENST00000415360.1:c.196G>C	ENSP00000389433.1:p.Asp66His
ENST00000440077.5:c.3157G>C	ENSP00000398543.1:p.Asp1053His
ENST00000469599.6:n.1878G>C
ENST00000492117.1:n.3172G>C
ENST00000541639.5:c.3373G>C	ENSP00000444293.1:p.Asp1125His
NM_001146705.1:c.3373G>C	NP_001140177.1:p.Asp1125His
NM_001146706.1:c.3109G>C	NP_001140178.1:p.Asp1037His
NM_004653.4:c.3280G>C	NP_004644.2:p.Asp1094His
XM_005262560.1:c.3145G>C	XP_005262617.1:p.Asp1049His
XM_005262561.1:c.3049G>C	XP_005262618.1:p.Asp1017His
XM_011531468.1:c.3202G>C	XP_011529770.1:p.Asp1068His
XR_244571.2:n.3568G>C
XR_430568.2:n.3902G>C
XM_005262560.3:c.3145G>C	XP_005262617.1:p.Asp1049His
XM_005262561.3:c.3049G>C	XP_005262618.1:p.Asp1017His
XM_011531468.3:c.3202G>C	XP_011529770.1:p.Asp1068His
XM_024452495.1:c.1270G>C	XP_024308263.1:p.Asp424His
XM_024452496.1:c.1036G>C	XP_024308264.1:p.Asp346His
XR_001756009.2:n.4018G>C
XR_001756010.2:n.4018G>C
XR_001756011.2:n.3883G>C
XR_001756012.2:n.4031G>C
XR_001756013.2:n.3349G>C
XR_002958832.1:n.3450G>C
XR_002958834.1:n.3674G>C
XR_002958835.1:n.3557G>C
XR_002958836.1:n.4240G>C
XR_002958837.1:n.4047G>C
XR_244571.4:n.3567G>C
XR_430568.4:n.3901G>C
NM_001146706.2:c.3109G>C	NP_001140178.1:p.Asp1037His
NM_004653.5:c.3280G>C MANE Select	NP_004644.2:p.Asp1094His
NM_001146705.2:c.3373G>C	NP_001140177.1:p.Asp1125His