Canonical Allele Identifier: CA414843985

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869557G>C (hg19) ; chrY:g.19707671G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707671G>C , CM000686.2:g.19707671G>C	GRCh38
NC_000024.9:g.21869557G>C , CM000686.1:g.21869557G>C	GRCh37
NC_000024.8:g.20328945G>C	NCBI36
NG_032920.1:g.42269C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3475C>G MANE Select	ENSP00000322408.4:p.Pro1159Ala
ENST00000317961.8:c.3475C>G	ENSP00000322408.4:p.Pro1159Ala
ENST00000382806.6:c.3304C>G	ENSP00000372256.2:p.Pro1102Ala
ENST00000415360.1:c.391C>G	ENSP00000389433.1:p.Pro131Ala
ENST00000440077.5:c.3352C>G	ENSP00000398543.1:p.Pro1118Ala
ENST00000469599.6:n.2073C>G
ENST00000492117.1:n.3367C>G
ENST00000541639.5:c.3568C>G	ENSP00000444293.1:p.Pro1190Ala
NM_001146705.1:c.3568C>G	NP_001140177.1:p.Pro1190Ala
NM_001146706.1:c.3304C>G	NP_001140178.1:p.Pro1102Ala
NM_004653.4:c.3475C>G	NP_004644.2:p.Pro1159Ala
XM_005262560.1:c.3340C>G	XP_005262617.1:p.Pro1114Ala
XM_005262561.1:c.3244C>G	XP_005262618.1:p.Pro1082Ala
XM_011531468.1:c.3397C>G	XP_011529770.1:p.Pro1133Ala
XR_244571.2:n.3763C>G
XR_430568.2:n.4097C>G
XM_005262560.3:c.3340C>G	XP_005262617.1:p.Pro1114Ala
XM_005262561.3:c.3244C>G	XP_005262618.1:p.Pro1082Ala
XM_011531468.3:c.3397C>G	XP_011529770.1:p.Pro1133Ala
XM_024452495.1:c.1465C>G	XP_024308263.1:p.Pro489Ala
XM_024452496.1:c.1231C>G	XP_024308264.1:p.Pro411Ala
XR_001756009.2:n.4213C>G
XR_001756010.2:n.4213C>G
XR_001756011.2:n.4078C>G
XR_001756012.2:n.4226C>G
XR_001756013.2:n.3544C>G
XR_002958832.1:n.3645C>G
XR_002958834.1:n.3869C>G
XR_002958835.1:n.3752C>G
XR_002958836.1:n.4435C>G
XR_002958837.1:n.4242C>G
XR_244571.4:n.3762C>G
XR_430568.4:n.4096C>G
NM_001146706.2:c.3304C>G	NP_001140178.1:p.Pro1102Ala
NM_004653.5:c.3475C>G MANE Select	NP_004644.2:p.Pro1159Ala
NM_001146705.2:c.3568C>G	NP_001140177.1:p.Pro1190Ala