Canonical Allele Identifier: CA520516820
Gene: KDM5D HGNC NCBI

Linked Data

MyVariant Identifiers: chrY:g.21869489T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707603T>C , CM000686.2:g.19707603T>C GRCh38
NC_000024.9:g.21869489T>C , CM000686.1:g.21869489T>C GRCh37
NC_000024.8:g.20328877T>C NCBI36
NG_032920.1:g.42337A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3543A>G MANE Select ENSP00000322408.4:p.Pro1181=
ENST00000317961.8:c.3543A>G ENSP00000322408.4:p.Pro1181=
ENST00000382806.6:c.3372A>G ENSP00000372256.2:p.Pro1124=
ENST00000415360.1:c.459A>G ENSP00000389433.1:p.Pro153=
ENST00000440077.5:c.3420A>G ENSP00000398543.1:p.Pro1140=
ENST00000469599.6:n.2141A>G
ENST00000492117.1:n.3435A>G
ENST00000541639.5:c.3636A>G ENSP00000444293.1:p.Pro1212=
NM_001146705.1:c.3636A>G NP_001140177.1:p.Pro1212=
NM_001146706.1:c.3372A>G NP_001140178.1:p.Pro1124=
NM_004653.4:c.3543A>G NP_004644.2:p.Pro1181=
XM_005262560.1:c.3408A>G XP_005262617.1:p.Pro1136=
XM_005262561.1:c.3312A>G XP_005262618.1:p.Pro1104=
XM_011531468.1:c.3465A>G XP_011529770.1:p.Pro1155=
XR_244571.2:n.3831A>G
XR_430568.2:n.4165A>G
XM_005262560.3:c.3408A>G XP_005262617.1:p.Pro1136=
XM_005262561.3:c.3312A>G XP_005262618.1:p.Pro1104=
XM_011531468.3:c.3465A>G XP_011529770.1:p.Pro1155=
XM_024452495.1:c.1533A>G XP_024308263.1:p.Pro511=
XM_024452496.1:c.1299A>G XP_024308264.1:p.Pro433=
XR_001756009.2:n.4281A>G
XR_001756010.2:n.4281A>G
XR_001756011.2:n.4146A>G
XR_001756012.2:n.4294A>G
XR_001756013.2:n.3612A>G
XR_002958832.1:n.3713A>G
XR_002958834.1:n.3937A>G
XR_002958835.1:n.3820A>G
XR_002958836.1:n.4503A>G
XR_002958837.1:n.4310A>G
XR_244571.4:n.3830A>G
XR_430568.4:n.4164A>G
NM_001146706.2:c.3372A>G NP_001140178.1:p.Pro1124=
NM_004653.5:c.3543A>G MANE Select NP_004644.2:p.Pro1181=
NM_001146705.2:c.3636A>G NP_001140177.1:p.Pro1212=