Canonical Allele Identifier: CA414844729

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869942C>A (hg19) ; chrY:g.19708056C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19708056C>A , CM000686.2:g.19708056C>A	GRCh38
NC_000024.9:g.21869942C>A , CM000686.1:g.21869942C>A	GRCh37
NC_000024.8:g.20329330C>A	NCBI36
NG_032920.1:g.41884G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3277G>T MANE Select	ENSP00000322408.4:p.Ala1093Ser
ENST00000317961.8:c.3277G>T	ENSP00000322408.4:p.Ala1093Ser
ENST00000382806.6:c.3106G>T	ENSP00000372256.2:p.Ala1036Ser
ENST00000415360.1:c.193G>T	ENSP00000389433.1:p.Ala65Ser
ENST00000440077.5:c.3154G>T	ENSP00000398543.1:p.Ala1052Ser
ENST00000469599.6:n.1875G>T
ENST00000492117.1:n.3169G>T
ENST00000541639.5:c.3370G>T	ENSP00000444293.1:p.Ala1124Ser
NM_001146705.1:c.3370G>T	NP_001140177.1:p.Ala1124Ser
NM_001146706.1:c.3106G>T	NP_001140178.1:p.Ala1036Ser
NM_004653.4:c.3277G>T	NP_004644.2:p.Ala1093Ser
XM_005262560.1:c.3142G>T	XP_005262617.1:p.Ala1048Ser
XM_005262561.1:c.3046G>T	XP_005262618.1:p.Ala1016Ser
XM_011531468.1:c.3199G>T	XP_011529770.1:p.Ala1067Ser
XR_244571.2:n.3565G>T
XR_430568.2:n.3899G>T
XM_005262560.3:c.3142G>T	XP_005262617.1:p.Ala1048Ser
XM_005262561.3:c.3046G>T	XP_005262618.1:p.Ala1016Ser
XM_011531468.3:c.3199G>T	XP_011529770.1:p.Ala1067Ser
XM_024452495.1:c.1267G>T	XP_024308263.1:p.Ala423Ser
XM_024452496.1:c.1033G>T	XP_024308264.1:p.Ala345Ser
XR_001756009.2:n.4015G>T
XR_001756010.2:n.4015G>T
XR_001756011.2:n.3880G>T
XR_001756012.2:n.4028G>T
XR_001756013.2:n.3346G>T
XR_002958832.1:n.3447G>T
XR_002958834.1:n.3671G>T
XR_002958835.1:n.3554G>T
XR_002958836.1:n.4237G>T
XR_002958837.1:n.4044G>T
XR_244571.4:n.3564G>T
XR_430568.4:n.3898G>T
NM_001146706.2:c.3106G>T	NP_001140178.1:p.Ala1036Ser
NM_004653.5:c.3277G>T MANE Select	NP_004644.2:p.Ala1093Ser
NM_001146705.2:c.3370G>T	NP_001140177.1:p.Ala1124Ser