Canonical Allele Identifier: CA10574755

Gene: KDM5D

Linked Data

• dbSNP Id: rs778271668
• ExAC: Y:21869775 G / A
• gnomAD v2: Y-21869775-G-A
• MyVariant Identifiers: chrY:g.21869775G>A (hg19) ; chrY:g.19707889G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707889G>A , CM000686.2:g.19707889G>A	GRCh38
NC_000024.9:g.21869775G>A , CM000686.1:g.21869775G>A	GRCh37
NC_000024.8:g.20329163G>A	NCBI36
NG_032920.1:g.42051C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000317961.9:c.3399+45C>T MANE Select	ENSP00000322408.4:n.3399+45C>T
ENST00000317961.8:c.3399+45C>T	ENSP00000322408.4:n.3399+45C>T
ENST00000382806.6:c.3228+45C>T	ENSP00000372256.2:n.3228+45C>T
ENST00000415360.1:c.315+45C>T	ENSP00000389433.1:n.315+45C>T
ENST00000440077.5:c.3276+45C>T	ENSP00000398543.1:n.3276+45C>T
ENST00000469599.6:n.1997+45C>T
ENST00000492117.1:n.3291+45C>T
ENST00000541639.5:c.3492+45C>T	ENSP00000444293.1:n.3492+45C>T
NM_001146705.1:c.3492+45C>T	NP_001140177.1:n.3492+45C>T
NM_001146706.1:c.3228+45C>T	NP_001140178.1:n.3228+45C>T
NM_004653.4:c.3399+45C>T	NP_004644.2:n.3399+45C>T
XM_005262560.1:c.3264+45C>T	XP_005262617.1:n.3264+45C>T
XM_005262561.1:c.3168+45C>T	XP_005262618.1:n.3168+45C>T
XM_011531468.1:c.3321+45C>T	XP_011529770.1:n.3321+45C>T
XR_244571.2:n.3687+45C>T
XR_430568.2:n.4021+45C>T
XM_005262560.3:c.3264+45C>T	XP_005262617.1:n.3264+45C>T
XM_005262561.3:c.3168+45C>T	XP_005262618.1:n.3168+45C>T
XM_011531468.3:c.3321+45C>T	XP_011529770.1:n.3321+45C>T
XM_024452495.1:c.1389+45C>T	XP_024308263.1:n.1389+45C>T
XM_024452496.1:c.1155+45C>T	XP_024308264.1:n.1155+45C>T
XR_001756009.2:n.4137+45C>T
XR_001756010.2:n.4137+45C>T
XR_001756011.2:n.4002+45C>T
XR_001756012.2:n.4150+45C>T
XR_001756013.2:n.3468+45C>T
XR_002958832.1:n.3569+45C>T
XR_002958834.1:n.3793+45C>T
XR_002958835.1:n.3676+45C>T
XR_002958836.1:n.4359+45C>T
XR_002958837.1:n.4166+45C>T
XR_244571.4:n.3686+45C>T
XR_430568.4:n.4020+45C>T
NM_001146706.2:c.3228+45C>T	NP_001140178.1:n.3228+45C>T
NM_004653.5:c.3399+45C>T MANE Select	NP_004644.2:n.3399+45C>T
NM_001146705.2:c.3492+45C>T	NP_001140177.1:n.3492+45C>T