Canonical Allele Identifier: CA414843700

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869475A>C (hg19) ; chrY:g.19707589A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707589A>C , CM000686.2:g.19707589A>C	GRCh38
NC_000024.9:g.21869475A>C , CM000686.1:g.21869475A>C	GRCh37
NC_000024.8:g.20328863A>C	NCBI36
NG_032920.1:g.42351T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3557T>G MANE Select	ENSP00000322408.4:p.Val1186Gly
ENST00000317961.8:c.3557T>G	ENSP00000322408.4:p.Val1186Gly
ENST00000382806.6:c.3386T>G	ENSP00000372256.2:p.Val1129Gly
ENST00000415360.1:c.473T>G	ENSP00000389433.1:p.Val158Gly
ENST00000440077.5:c.3434T>G	ENSP00000398543.1:p.Val1145Gly
ENST00000469599.6:n.2155T>G
ENST00000492117.1:n.3449T>G
ENST00000541639.5:c.3650T>G	ENSP00000444293.1:p.Val1217Gly
NM_001146705.1:c.3650T>G	NP_001140177.1:p.Val1217Gly
NM_001146706.1:c.3386T>G	NP_001140178.1:p.Val1129Gly
NM_004653.4:c.3557T>G	NP_004644.2:p.Val1186Gly
XM_005262560.1:c.3422T>G	XP_005262617.1:p.Val1141Gly
XM_005262561.1:c.3326T>G	XP_005262618.1:p.Val1109Gly
XM_011531468.1:c.3479T>G	XP_011529770.1:p.Val1160Gly
XR_244571.2:n.3845T>G
XR_430568.2:n.4179T>G
XM_005262560.3:c.3422T>G	XP_005262617.1:p.Val1141Gly
XM_005262561.3:c.3326T>G	XP_005262618.1:p.Val1109Gly
XM_011531468.3:c.3479T>G	XP_011529770.1:p.Val1160Gly
XM_024452495.1:c.1547T>G	XP_024308263.1:p.Val516Gly
XM_024452496.1:c.1313T>G	XP_024308264.1:p.Val438Gly
XR_001756009.2:n.4295T>G
XR_001756010.2:n.4295T>G
XR_001756011.2:n.4160T>G
XR_001756012.2:n.4308T>G
XR_001756013.2:n.3626T>G
XR_002958832.1:n.3727T>G
XR_002958834.1:n.3951T>G
XR_002958835.1:n.3834T>G
XR_002958836.1:n.4517T>G
XR_002958837.1:n.4324T>G
XR_244571.4:n.3844T>G
XR_430568.4:n.4178T>G
NM_001146706.2:c.3386T>G	NP_001140178.1:p.Val1129Gly
NM_004653.5:c.3557T>G MANE Select	NP_004644.2:p.Val1186Gly
NM_001146705.2:c.3650T>G	NP_001140177.1:p.Val1217Gly