Canonical Allele Identifier: CA10574951

Gene: KDM5D

Linked Data

• dbSNP Id: rs2032618
• ExAC: Y:21893753 C / T
• gnomAD v2: Y-21893753-C-T
• MyVariant Identifiers: chrY:g.21893753C>T (hg19) ; chrY:g.19731867C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19731867C>T , CM000686.2:g.19731867C>T	GRCh38
NC_000024.9:g.21893753C>T , CM000686.1:g.21893753C>T	GRCh37
NC_000024.8:g.20353141C>T	NCBI36
NG_032920.1:g.18073G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000317961.9:c.1276G>A MANE Select	ENSP00000322408.4:p.Val426Met
ENST00000317961.8:c.1276G>A	ENSP00000322408.4:p.Val426Met
ENST00000382806.6:c.1105G>A	ENSP00000372256.2:p.Val369Met
ENST00000440077.5:c.1153G>A	ENSP00000398543.1:p.Val385Met
ENST00000447300.1:c.1141G>A	ENSP00000416377.1:p.Val381Met
ENST00000541639.5:c.1276G>A	ENSP00000444293.1:p.Val426Met
NM_001146705.1:c.1276G>A	NP_001140177.1:p.Val426Met
NM_001146706.1:c.1105G>A	NP_001140178.1:p.Val369Met
NM_004653.4:c.1276G>A	NP_004644.2:p.Val426Met
XM_005262560.1:c.1141G>A	XP_005262617.1:p.Val381Met
XM_005262561.1:c.1276G>A	XP_005262618.1:p.Val426Met
XM_005262562.2:c.1276G>A	XP_005262619.1:p.Val426Met
XM_011531468.1:c.1276G>A	XP_011529770.1:p.Val426Met
XR_244571.2:n.1564G>A
XR_430568.2:n.1564G>A
XR_938609.1:n.1564G>A
XR_938610.1:n.1564G>A
XM_005262560.3:c.1141G>A	XP_005262617.1:p.Val381Met
XM_005262561.3:c.1276G>A	XP_005262618.1:p.Val426Met
XM_011531468.3:c.1276G>A	XP_011529770.1:p.Val426Met
XM_024452495.1:c.-842G>A	XP_024308263.1:n.-842G>A
XR_001756009.2:n.1563G>A
XR_001756010.2:n.1563G>A
XR_001756011.2:n.1428G>A
XR_001756012.2:n.1563G>A
XR_001756013.2:n.1563G>A
XR_002958832.1:n.1563G>A
XR_002958833.1:n.1563G>A
XR_002958834.1:n.1563G>A
XR_002958835.1:n.1563G>A
XR_002958836.1:n.1563G>A
XR_002958837.1:n.1563G>A
XR_244571.4:n.1563G>A
XR_430568.4:n.1563G>A
NM_001146706.2:c.1105G>A	NP_001140178.1:p.Val369Met
NM_004653.5:c.1276G>A MANE Select	NP_004644.2:p.Val426Met
NM_001146705.2:c.1276G>A	NP_001140177.1:p.Val426Met