Canonical Allele Identifier: CA414844241

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869822C>G (hg19) ; chrY:g.19707936C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707936C>G , CM000686.2:g.19707936C>G	GRCh38
NC_000024.9:g.21869822C>G , CM000686.1:g.21869822C>G	GRCh37
NC_000024.8:g.20329210C>G	NCBI36
NG_032920.1:g.42004G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000317961.9:c.3397G>C MANE Select	ENSP00000322408.4:p.Val1133Leu
ENST00000317961.8:c.3397G>C	ENSP00000322408.4:p.Val1133Leu
ENST00000382806.6:c.3226G>C	ENSP00000372256.2:p.Val1076Leu
ENST00000415360.1:c.313G>C	ENSP00000389433.1:p.Val105Leu
ENST00000440077.5:c.3274G>C	ENSP00000398543.1:p.Val1092Leu
ENST00000469599.6:n.1995G>C
ENST00000492117.1:n.3289G>C
ENST00000541639.5:c.3490G>C	ENSP00000444293.1:p.Val1164Leu
NM_001146705.1:c.3490G>C	NP_001140177.1:p.Val1164Leu
NM_001146706.1:c.3226G>C	NP_001140178.1:p.Val1076Leu
NM_004653.4:c.3397G>C	NP_004644.2:p.Val1133Leu
XM_005262560.1:c.3262G>C	XP_005262617.1:p.Val1088Leu
XM_005262561.1:c.3166G>C	XP_005262618.1:p.Val1056Leu
XM_011531468.1:c.3319G>C	XP_011529770.1:p.Val1107Leu
XR_244571.2:n.3685G>C
XR_430568.2:n.4019G>C
XM_005262560.3:c.3262G>C	XP_005262617.1:p.Val1088Leu
XM_005262561.3:c.3166G>C	XP_005262618.1:p.Val1056Leu
XM_011531468.3:c.3319G>C	XP_011529770.1:p.Val1107Leu
XM_024452495.1:c.1387G>C	XP_024308263.1:p.Val463Leu
XM_024452496.1:c.1153G>C	XP_024308264.1:p.Val385Leu
XR_001756009.2:n.4135G>C
XR_001756010.2:n.4135G>C
XR_001756011.2:n.4000G>C
XR_001756012.2:n.4148G>C
XR_001756013.2:n.3466G>C
XR_002958832.1:n.3567G>C
XR_002958834.1:n.3791G>C
XR_002958835.1:n.3674G>C
XR_002958836.1:n.4357G>C
XR_002958837.1:n.4164G>C
XR_244571.4:n.3684G>C
XR_430568.4:n.4018G>C
NM_001146706.2:c.3226G>C	NP_001140178.1:p.Val1076Leu
NM_004653.5:c.3397G>C MANE Select	NP_004644.2:p.Val1133Leu
NM_001146705.2:c.3490G>C	NP_001140177.1:p.Val1164Leu