Canonical Allele Identifier: CA414839792

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21867900G>A (hg19) ; chrY:g.19706014G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706014G>A , CM000686.2:g.19706014G>A	GRCh38
NC_000024.9:g.21867900G>A , CM000686.1:g.21867900G>A	GRCh37
NC_000024.8:g.20327288G>A	NCBI36
NG_032920.1:g.43926C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4601C>T MANE Select	ENSP00000322408.4:p.Ser1534Phe
ENST00000317961.8:c.4601C>T	ENSP00000322408.4:p.Ser1534Phe
ENST00000382806.6:c.4430C>T	ENSP00000372256.2:p.Ser1477Phe
ENST00000469599.6:n.3352C>T
ENST00000492117.1:n.4646C>T
ENST00000541639.5:c.4694C>T	ENSP00000444293.1:p.Ser1565Phe
NM_001146705.1:c.4694C>T	NP_001140177.1:p.Ser1565Phe
NM_001146706.1:c.4430C>T	NP_001140178.1:p.Ser1477Phe
NM_004653.4:c.4601C>T	NP_004644.2:p.Ser1534Phe
XM_005262560.1:c.4466C>T	XP_005262617.1:p.Ser1489Phe
XM_005262561.1:c.4370C>T	XP_005262618.1:p.Ser1457Phe
XM_011531468.1:c.4523C>T	XP_011529770.1:p.Ser1508Phe
XR_430568.2:n.5376C>T
XM_005262560.3:c.4466C>T	XP_005262617.1:p.Ser1489Phe
XM_005262561.3:c.4370C>T	XP_005262618.1:p.Ser1457Phe
XM_011531468.3:c.4523C>T	XP_011529770.1:p.Ser1508Phe
XM_024452495.1:c.2591C>T	XP_024308263.1:p.Ser864Phe
XM_024452496.1:c.2357C>T	XP_024308264.1:p.Ser786Phe
XR_001756009.2:n.5339C>T
XR_001756010.2:n.5307C>T
XR_001756011.2:n.5204C>T
XR_001756012.2:n.5352C>T
XR_001756013.2:n.4670C>T
XR_002958832.1:n.4924C>T
XR_002958834.1:n.4995C>T
XR_002958835.1:n.4878C>T
XR_002958836.1:n.5529C>T
XR_002958837.1:n.5336C>T
XR_244571.4:n.4856C>T
XR_430568.4:n.5375C>T
NM_001146706.2:c.4430C>T	NP_001140178.1:p.Ser1477Phe
NM_004653.5:c.4601C>T MANE Select	NP_004644.2:p.Ser1534Phe
NM_001146705.2:c.4694C>T	NP_001140177.1:p.Ser1565Phe