Canonical Allele Identifier: CA10574758

Gene: KDM5D

Linked Data

• dbSNP Id: rs764239225
• ExAC: Y:21869834 C / T
• gnomAD v2: Y-21869834-C-T
• MyVariant Identifiers: chrY:g.21869834C>T (hg19) ; chrY:g.19707948C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707948C>T , CM000686.2:g.19707948C>T	GRCh38
NC_000024.9:g.21869834C>T , CM000686.1:g.21869834C>T	GRCh37
NC_000024.8:g.20329222C>T	NCBI36
NG_032920.1:g.41992G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3385G>A MANE Select	ENSP00000322408.4:p.Asp1129Asn
ENST00000317961.8:c.3385G>A	ENSP00000322408.4:p.Asp1129Asn
ENST00000382806.6:c.3214G>A	ENSP00000372256.2:p.Asp1072Asn
ENST00000415360.1:c.301G>A	ENSP00000389433.1:p.Asp101Asn
ENST00000440077.5:c.3262G>A	ENSP00000398543.1:p.Asp1088Asn
ENST00000469599.6:n.1983G>A
ENST00000492117.1:n.3277G>A
ENST00000541639.5:c.3478G>A	ENSP00000444293.1:p.Asp1160Asn
NM_001146705.1:c.3478G>A	NP_001140177.1:p.Asp1160Asn
NM_001146706.1:c.3214G>A	NP_001140178.1:p.Asp1072Asn
NM_004653.4:c.3385G>A	NP_004644.2:p.Asp1129Asn
XM_005262560.1:c.3250G>A	XP_005262617.1:p.Asp1084Asn
XM_005262561.1:c.3154G>A	XP_005262618.1:p.Asp1052Asn
XM_011531468.1:c.3307G>A	XP_011529770.1:p.Asp1103Asn
XR_244571.2:n.3673G>A
XR_430568.2:n.4007G>A
XM_005262560.3:c.3250G>A	XP_005262617.1:p.Asp1084Asn
XM_005262561.3:c.3154G>A	XP_005262618.1:p.Asp1052Asn
XM_011531468.3:c.3307G>A	XP_011529770.1:p.Asp1103Asn
XM_024452495.1:c.1375G>A	XP_024308263.1:p.Asp459Asn
XM_024452496.1:c.1141G>A	XP_024308264.1:p.Asp381Asn
XR_001756009.2:n.4123G>A
XR_001756010.2:n.4123G>A
XR_001756011.2:n.3988G>A
XR_001756012.2:n.4136G>A
XR_001756013.2:n.3454G>A
XR_002958832.1:n.3555G>A
XR_002958834.1:n.3779G>A
XR_002958835.1:n.3662G>A
XR_002958836.1:n.4345G>A
XR_002958837.1:n.4152G>A
XR_244571.4:n.3672G>A
XR_430568.4:n.4006G>A
NM_001146706.2:c.3214G>A	NP_001140178.1:p.Asp1072Asn
NM_004653.5:c.3385G>A MANE Select	NP_004644.2:p.Asp1129Asn
NM_001146705.2:c.3478G>A	NP_001140177.1:p.Asp1160Asn