Canonical Allele Identifier: CA414843706

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869478C>A (hg19) ; chrY:g.19707592C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707592C>A , CM000686.2:g.19707592C>A	GRCh38
NC_000024.9:g.21869478C>A , CM000686.1:g.21869478C>A	GRCh37
NC_000024.8:g.20328866C>A	NCBI36
NG_032920.1:g.42348G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3554G>T MANE Select	ENSP00000322408.4:p.Gly1185Val
ENST00000317961.8:c.3554G>T	ENSP00000322408.4:p.Gly1185Val
ENST00000382806.6:c.3383G>T	ENSP00000372256.2:p.Gly1128Val
ENST00000415360.1:c.470G>T	ENSP00000389433.1:p.Gly157Val
ENST00000440077.5:c.3431G>T	ENSP00000398543.1:p.Gly1144Val
ENST00000469599.6:n.2152G>T
ENST00000492117.1:n.3446G>T
ENST00000541639.5:c.3647G>T	ENSP00000444293.1:p.Gly1216Val
NM_001146705.1:c.3647G>T	NP_001140177.1:p.Gly1216Val
NM_001146706.1:c.3383G>T	NP_001140178.1:p.Gly1128Val
NM_004653.4:c.3554G>T	NP_004644.2:p.Gly1185Val
XM_005262560.1:c.3419G>T	XP_005262617.1:p.Gly1140Val
XM_005262561.1:c.3323G>T	XP_005262618.1:p.Gly1108Val
XM_011531468.1:c.3476G>T	XP_011529770.1:p.Gly1159Val
XR_244571.2:n.3842G>T
XR_430568.2:n.4176G>T
XM_005262560.3:c.3419G>T	XP_005262617.1:p.Gly1140Val
XM_005262561.3:c.3323G>T	XP_005262618.1:p.Gly1108Val
XM_011531468.3:c.3476G>T	XP_011529770.1:p.Gly1159Val
XM_024452495.1:c.1544G>T	XP_024308263.1:p.Gly515Val
XM_024452496.1:c.1310G>T	XP_024308264.1:p.Gly437Val
XR_001756009.2:n.4292G>T
XR_001756010.2:n.4292G>T
XR_001756011.2:n.4157G>T
XR_001756012.2:n.4305G>T
XR_001756013.2:n.3623G>T
XR_002958832.1:n.3724G>T
XR_002958834.1:n.3948G>T
XR_002958835.1:n.3831G>T
XR_002958836.1:n.4514G>T
XR_002958837.1:n.4321G>T
XR_244571.4:n.3841G>T
XR_430568.4:n.4175G>T
NM_001146706.2:c.3383G>T	NP_001140178.1:p.Gly1128Val
NM_004653.5:c.3554G>T MANE Select	NP_004644.2:p.Gly1185Val
NM_001146705.2:c.3647G>T	NP_001140177.1:p.Gly1216Val