Canonical Allele Identifier: CA414843333

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869380G>A (hg19) ; chrY:g.19707494G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707494G>A , CM000686.2:g.19707494G>A	GRCh38
NC_000024.9:g.21869380G>A , CM000686.1:g.21869380G>A	GRCh37
NC_000024.8:g.20328768G>A	NCBI36
NG_032920.1:g.42446C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3652C>T MANE Select	ENSP00000322408.4:p.Pro1218Ser
ENST00000317961.8:c.3652C>T	ENSP00000322408.4:p.Pro1218Ser
ENST00000382806.6:c.3481C>T	ENSP00000372256.2:p.Pro1161Ser
ENST00000415360.1:c.568C>T	ENSP00000389433.1:p.Pro190Ser
ENST00000440077.5:c.3529C>T	ENSP00000398543.1:p.Pro1177Ser
ENST00000469599.6:n.2250C>T
ENST00000492117.1:n.3544C>T
ENST00000541639.5:c.3745C>T	ENSP00000444293.1:p.Pro1249Ser
NM_001146705.1:c.3745C>T	NP_001140177.1:p.Pro1249Ser
NM_001146706.1:c.3481C>T	NP_001140178.1:p.Pro1161Ser
NM_004653.4:c.3652C>T	NP_004644.2:p.Pro1218Ser
XM_005262560.1:c.3517C>T	XP_005262617.1:p.Pro1173Ser
XM_005262561.1:c.3421C>T	XP_005262618.1:p.Pro1141Ser
XM_011531468.1:c.3574C>T	XP_011529770.1:p.Pro1192Ser
XR_244571.2:n.3940C>T
XR_430568.2:n.4274C>T
XM_005262560.3:c.3517C>T	XP_005262617.1:p.Pro1173Ser
XM_005262561.3:c.3421C>T	XP_005262618.1:p.Pro1141Ser
XM_011531468.3:c.3574C>T	XP_011529770.1:p.Pro1192Ser
XM_024452495.1:c.1642C>T	XP_024308263.1:p.Pro548Ser
XM_024452496.1:c.1408C>T	XP_024308264.1:p.Pro470Ser
XR_001756009.2:n.4390C>T
XR_001756010.2:n.4390C>T
XR_001756011.2:n.4255C>T
XR_001756012.2:n.4403C>T
XR_001756013.2:n.3721C>T
XR_002958832.1:n.3822C>T
XR_002958834.1:n.4046C>T
XR_002958835.1:n.3929C>T
XR_002958836.1:n.4612C>T
XR_002958837.1:n.4419C>T
XR_244571.4:n.3939C>T
XR_430568.4:n.4273C>T
NM_001146706.2:c.3481C>T	NP_001140178.1:p.Pro1161Ser
NM_004653.5:c.3652C>T MANE Select	NP_004644.2:p.Pro1218Ser
NM_001146705.2:c.3745C>T	NP_001140177.1:p.Pro1249Ser