Canonical Allele Identifier: CA414843942

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869545C>A (hg19) ; chrY:g.19707659C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707659C>A , CM000686.2:g.19707659C>A	GRCh38
NC_000024.9:g.21869545C>A , CM000686.1:g.21869545C>A	GRCh37
NC_000024.8:g.20328933C>A	NCBI36
NG_032920.1:g.42281G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3487G>T MANE Select	ENSP00000322408.4:p.Ala1163Ser
ENST00000317961.8:c.3487G>T	ENSP00000322408.4:p.Ala1163Ser
ENST00000382806.6:c.3316G>T	ENSP00000372256.2:p.Ala1106Ser
ENST00000415360.1:c.403G>T	ENSP00000389433.1:p.Ala135Ser
ENST00000440077.5:c.3364G>T	ENSP00000398543.1:p.Ala1122Ser
ENST00000469599.6:n.2085G>T
ENST00000492117.1:n.3379G>T
ENST00000541639.5:c.3580G>T	ENSP00000444293.1:p.Ala1194Ser
NM_001146705.1:c.3580G>T	NP_001140177.1:p.Ala1194Ser
NM_001146706.1:c.3316G>T	NP_001140178.1:p.Ala1106Ser
NM_004653.4:c.3487G>T	NP_004644.2:p.Ala1163Ser
XM_005262560.1:c.3352G>T	XP_005262617.1:p.Ala1118Ser
XM_005262561.1:c.3256G>T	XP_005262618.1:p.Ala1086Ser
XM_011531468.1:c.3409G>T	XP_011529770.1:p.Ala1137Ser
XR_244571.2:n.3775G>T
XR_430568.2:n.4109G>T
XM_005262560.3:c.3352G>T	XP_005262617.1:p.Ala1118Ser
XM_005262561.3:c.3256G>T	XP_005262618.1:p.Ala1086Ser
XM_011531468.3:c.3409G>T	XP_011529770.1:p.Ala1137Ser
XM_024452495.1:c.1477G>T	XP_024308263.1:p.Ala493Ser
XM_024452496.1:c.1243G>T	XP_024308264.1:p.Ala415Ser
XR_001756009.2:n.4225G>T
XR_001756010.2:n.4225G>T
XR_001756011.2:n.4090G>T
XR_001756012.2:n.4238G>T
XR_001756013.2:n.3556G>T
XR_002958832.1:n.3657G>T
XR_002958834.1:n.3881G>T
XR_002958835.1:n.3764G>T
XR_002958836.1:n.4447G>T
XR_002958837.1:n.4254G>T
XR_244571.4:n.3774G>T
XR_430568.4:n.4108G>T
NM_001146706.2:c.3316G>T	NP_001140178.1:p.Ala1106Ser
NM_004653.5:c.3487G>T MANE Select	NP_004644.2:p.Ala1163Ser
NM_001146705.2:c.3580G>T	NP_001140177.1:p.Ala1194Ser