Canonical Allele Identifier: CA10574767

Gene: KDM5D

Linked Data

• dbSNP Id: rs35247789
• ExAC: Y:21869923 C / T
• gnomAD v2: Y-21869923-C-T
• gnomAD v3: Y-19708037-C-T
• gnomAD v4: Y-19708037-C-T
• MyVariant Identifiers: chrY:g.21869923C>T (hg19) ; chrY:g.19708037C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19708037C>T , CM000686.2:g.19708037C>T	GRCh38
NC_000024.9:g.21869923C>T , CM000686.1:g.21869923C>T	GRCh37
NC_000024.8:g.20329311C>T	NCBI36
NG_032920.1:g.41903G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3296G>A MANE Select	ENSP00000322408.4:p.Ser1099Asn
ENST00000317961.8:c.3296G>A	ENSP00000322408.4:p.Ser1099Asn
ENST00000382806.6:c.3125G>A	ENSP00000372256.2:p.Ser1042Asn
ENST00000415360.1:c.212G>A	ENSP00000389433.1:p.Ser71Asn
ENST00000440077.5:c.3173G>A	ENSP00000398543.1:p.Ser1058Asn
ENST00000469599.6:n.1894G>A
ENST00000492117.1:n.3188G>A
ENST00000541639.5:c.3389G>A	ENSP00000444293.1:p.Ser1130Asn
NM_001146705.1:c.3389G>A	NP_001140177.1:p.Ser1130Asn
NM_001146706.1:c.3125G>A	NP_001140178.1:p.Ser1042Asn
NM_004653.4:c.3296G>A	NP_004644.2:p.Ser1099Asn
XM_005262560.1:c.3161G>A	XP_005262617.1:p.Ser1054Asn
XM_005262561.1:c.3065G>A	XP_005262618.1:p.Ser1022Asn
XM_011531468.1:c.3218G>A	XP_011529770.1:p.Ser1073Asn
XR_244571.2:n.3584G>A
XR_430568.2:n.3918G>A
XM_005262560.3:c.3161G>A	XP_005262617.1:p.Ser1054Asn
XM_005262561.3:c.3065G>A	XP_005262618.1:p.Ser1022Asn
XM_011531468.3:c.3218G>A	XP_011529770.1:p.Ser1073Asn
XM_024452495.1:c.1286G>A	XP_024308263.1:p.Ser429Asn
XM_024452496.1:c.1052G>A	XP_024308264.1:p.Ser351Asn
XR_001756009.2:n.4034G>A
XR_001756010.2:n.4034G>A
XR_001756011.2:n.3899G>A
XR_001756012.2:n.4047G>A
XR_001756013.2:n.3365G>A
XR_002958832.1:n.3466G>A
XR_002958834.1:n.3690G>A
XR_002958835.1:n.3573G>A
XR_002958836.1:n.4256G>A
XR_002958837.1:n.4063G>A
XR_244571.4:n.3583G>A
XR_430568.4:n.3917G>A
NM_001146706.2:c.3125G>A	NP_001140178.1:p.Ser1042Asn
NM_004653.5:c.3296G>A MANE Select	NP_004644.2:p.Ser1099Asn
NM_001146705.2:c.3389G>A	NP_001140177.1:p.Ser1130Asn