Canonical Allele Identifier: CA414844108

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869603C>G (hg19) ; chrY:g.19707717C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707717C>G , CM000686.2:g.19707717C>G	GRCh38
NC_000024.9:g.21869603C>G , CM000686.1:g.21869603C>G	GRCh37
NC_000024.8:g.20328991C>G	NCBI36
NG_032920.1:g.42223G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3429G>C MANE Select	ENSP00000322408.4:p.Lys1143Asn
ENST00000317961.8:c.3429G>C	ENSP00000322408.4:p.Lys1143Asn
ENST00000382806.6:c.3258G>C	ENSP00000372256.2:p.Lys1086Asn
ENST00000415360.1:c.345G>C	ENSP00000389433.1:p.Lys115Asn
ENST00000440077.5:c.3306G>C	ENSP00000398543.1:p.Lys1102Asn
ENST00000469599.6:n.2027G>C
ENST00000492117.1:n.3321G>C
ENST00000541639.5:c.3522G>C	ENSP00000444293.1:p.Lys1174Asn
NM_001146705.1:c.3522G>C	NP_001140177.1:p.Lys1174Asn
NM_001146706.1:c.3258G>C	NP_001140178.1:p.Lys1086Asn
NM_004653.4:c.3429G>C	NP_004644.2:p.Lys1143Asn
XM_005262560.1:c.3294G>C	XP_005262617.1:p.Lys1098Asn
XM_005262561.1:c.3198G>C	XP_005262618.1:p.Lys1066Asn
XM_011531468.1:c.3351G>C	XP_011529770.1:p.Lys1117Asn
XR_244571.2:n.3717G>C
XR_430568.2:n.4051G>C
XM_005262560.3:c.3294G>C	XP_005262617.1:p.Lys1098Asn
XM_005262561.3:c.3198G>C	XP_005262618.1:p.Lys1066Asn
XM_011531468.3:c.3351G>C	XP_011529770.1:p.Lys1117Asn
XM_024452495.1:c.1419G>C	XP_024308263.1:p.Lys473Asn
XM_024452496.1:c.1185G>C	XP_024308264.1:p.Lys395Asn
XR_001756009.2:n.4167G>C
XR_001756010.2:n.4167G>C
XR_001756011.2:n.4032G>C
XR_001756012.2:n.4180G>C
XR_001756013.2:n.3498G>C
XR_002958832.1:n.3599G>C
XR_002958834.1:n.3823G>C
XR_002958835.1:n.3706G>C
XR_002958836.1:n.4389G>C
XR_002958837.1:n.4196G>C
XR_244571.4:n.3716G>C
XR_430568.4:n.4050G>C
NM_001146706.2:c.3258G>C	NP_001140178.1:p.Lys1086Asn
NM_004653.5:c.3429G>C MANE Select	NP_004644.2:p.Lys1143Asn
NM_001146705.2:c.3522G>C	NP_001140177.1:p.Lys1174Asn