Canonical Allele Identifier: CA414844362

Gene: KDM5D

Linked Data

• COSMIC: COSM6405881
• MyVariant Identifiers: chrY:g.21869860A>G (hg19) ; chrY:g.19707974A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707974A>G , CM000686.2:g.19707974A>G	GRCh38
NC_000024.9:g.21869860A>G , CM000686.1:g.21869860A>G	GRCh37
NC_000024.8:g.20329248A>G	NCBI36
NG_032920.1:g.41966T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000317961.9:c.3359T>C MANE Select	ENSP00000322408.4:p.Leu1120Pro
ENST00000317961.8:c.3359T>C	ENSP00000322408.4:p.Leu1120Pro
ENST00000382806.6:c.3188T>C	ENSP00000372256.2:p.Leu1063Pro
ENST00000415360.1:c.275T>C	ENSP00000389433.1:p.Leu92Pro
ENST00000440077.5:c.3236T>C	ENSP00000398543.1:p.Leu1079Pro
ENST00000469599.6:n.1957T>C
ENST00000492117.1:n.3251T>C
ENST00000541639.5:c.3452T>C	ENSP00000444293.1:p.Leu1151Pro
NM_001146705.1:c.3452T>C	NP_001140177.1:p.Leu1151Pro
NM_001146706.1:c.3188T>C	NP_001140178.1:p.Leu1063Pro
NM_004653.4:c.3359T>C	NP_004644.2:p.Leu1120Pro
XM_005262560.1:c.3224T>C	XP_005262617.1:p.Leu1075Pro
XM_005262561.1:c.3128T>C	XP_005262618.1:p.Leu1043Pro
XM_011531468.1:c.3281T>C	XP_011529770.1:p.Leu1094Pro
XR_244571.2:n.3647T>C
XR_430568.2:n.3981T>C
XM_005262560.3:c.3224T>C	XP_005262617.1:p.Leu1075Pro
XM_005262561.3:c.3128T>C	XP_005262618.1:p.Leu1043Pro
XM_011531468.3:c.3281T>C	XP_011529770.1:p.Leu1094Pro
XM_024452495.1:c.1349T>C	XP_024308263.1:p.Leu450Pro
XM_024452496.1:c.1115T>C	XP_024308264.1:p.Leu372Pro
XR_001756009.2:n.4097T>C
XR_001756010.2:n.4097T>C
XR_001756011.2:n.3962T>C
XR_001756012.2:n.4110T>C
XR_001756013.2:n.3428T>C
XR_002958832.1:n.3529T>C
XR_002958834.1:n.3753T>C
XR_002958835.1:n.3636T>C
XR_002958836.1:n.4319T>C
XR_002958837.1:n.4126T>C
XR_244571.4:n.3646T>C
XR_430568.4:n.3980T>C
NM_001146706.2:c.3188T>C	NP_001140178.1:p.Leu1063Pro
NM_004653.5:c.3359T>C MANE Select	NP_004644.2:p.Leu1120Pro
NM_001146705.2:c.3452T>C	NP_001140177.1:p.Leu1151Pro