Canonical Allele Identifier: CA414844797

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869957C>G (hg19) ; chrY:g.19708071C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19708071C>G , CM000686.2:g.19708071C>G	GRCh38
NC_000024.9:g.21869957C>G , CM000686.1:g.21869957C>G	GRCh37
NC_000024.8:g.20329345C>G	NCBI36
NG_032920.1:g.41869G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3262G>C MANE Select	ENSP00000322408.4:p.Val1088Leu
ENST00000317961.8:c.3262G>C	ENSP00000322408.4:p.Val1088Leu
ENST00000382806.6:c.3091G>C	ENSP00000372256.2:p.Val1031Leu
ENST00000415360.1:c.178G>C	ENSP00000389433.1:p.Val60Leu
ENST00000440077.5:c.3139G>C	ENSP00000398543.1:p.Val1047Leu
ENST00000469599.6:n.1860G>C
ENST00000492117.1:n.3154G>C
ENST00000541639.5:c.3355G>C	ENSP00000444293.1:p.Val1119Leu
NM_001146705.1:c.3355G>C	NP_001140177.1:p.Val1119Leu
NM_001146706.1:c.3091G>C	NP_001140178.1:p.Val1031Leu
NM_004653.4:c.3262G>C	NP_004644.2:p.Val1088Leu
XM_005262560.1:c.3127G>C	XP_005262617.1:p.Val1043Leu
XM_005262561.1:c.3031G>C	XP_005262618.1:p.Val1011Leu
XM_011531468.1:c.3184G>C	XP_011529770.1:p.Val1062Leu
XR_244571.2:n.3550G>C
XR_430568.2:n.3884G>C
XM_005262560.3:c.3127G>C	XP_005262617.1:p.Val1043Leu
XM_005262561.3:c.3031G>C	XP_005262618.1:p.Val1011Leu
XM_011531468.3:c.3184G>C	XP_011529770.1:p.Val1062Leu
XM_024452495.1:c.1252G>C	XP_024308263.1:p.Val418Leu
XM_024452496.1:c.1018G>C	XP_024308264.1:p.Val340Leu
XR_001756009.2:n.4000G>C
XR_001756010.2:n.4000G>C
XR_001756011.2:n.3865G>C
XR_001756012.2:n.4013G>C
XR_001756013.2:n.3331G>C
XR_002958832.1:n.3432G>C
XR_002958834.1:n.3656G>C
XR_002958835.1:n.3539G>C
XR_002958836.1:n.4222G>C
XR_002958837.1:n.4029G>C
XR_244571.4:n.3549G>C
XR_430568.4:n.3883G>C
NM_001146706.2:c.3091G>C	NP_001140178.1:p.Val1031Leu
NM_004653.5:c.3262G>C MANE Select	NP_004644.2:p.Val1088Leu
NM_001146705.2:c.3355G>C	NP_001140177.1:p.Val1119Leu