Canonical Allele Identifier: CA414843758

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869493A>C (hg19) ; chrY:g.19707607A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707607A>C , CM000686.2:g.19707607A>C	GRCh38
NC_000024.9:g.21869493A>C , CM000686.1:g.21869493A>C	GRCh37
NC_000024.8:g.20328881A>C	NCBI36
NG_032920.1:g.42333T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3539T>G MANE Select	ENSP00000322408.4:p.Val1180Gly
ENST00000317961.8:c.3539T>G	ENSP00000322408.4:p.Val1180Gly
ENST00000382806.6:c.3368T>G	ENSP00000372256.2:p.Val1123Gly
ENST00000415360.1:c.455T>G	ENSP00000389433.1:p.Val152Gly
ENST00000440077.5:c.3416T>G	ENSP00000398543.1:p.Val1139Gly
ENST00000469599.6:n.2137T>G
ENST00000492117.1:n.3431T>G
ENST00000541639.5:c.3632T>G	ENSP00000444293.1:p.Val1211Gly
NM_001146705.1:c.3632T>G	NP_001140177.1:p.Val1211Gly
NM_001146706.1:c.3368T>G	NP_001140178.1:p.Val1123Gly
NM_004653.4:c.3539T>G	NP_004644.2:p.Val1180Gly
XM_005262560.1:c.3404T>G	XP_005262617.1:p.Val1135Gly
XM_005262561.1:c.3308T>G	XP_005262618.1:p.Val1103Gly
XM_011531468.1:c.3461T>G	XP_011529770.1:p.Val1154Gly
XR_244571.2:n.3827T>G
XR_430568.2:n.4161T>G
XM_005262560.3:c.3404T>G	XP_005262617.1:p.Val1135Gly
XM_005262561.3:c.3308T>G	XP_005262618.1:p.Val1103Gly
XM_011531468.3:c.3461T>G	XP_011529770.1:p.Val1154Gly
XM_024452495.1:c.1529T>G	XP_024308263.1:p.Val510Gly
XM_024452496.1:c.1295T>G	XP_024308264.1:p.Val432Gly
XR_001756009.2:n.4277T>G
XR_001756010.2:n.4277T>G
XR_001756011.2:n.4142T>G
XR_001756012.2:n.4290T>G
XR_001756013.2:n.3608T>G
XR_002958832.1:n.3709T>G
XR_002958834.1:n.3933T>G
XR_002958835.1:n.3816T>G
XR_002958836.1:n.4499T>G
XR_002958837.1:n.4306T>G
XR_244571.4:n.3826T>G
XR_430568.4:n.4160T>G
NM_001146706.2:c.3368T>G	NP_001140178.1:p.Val1123Gly
NM_004653.5:c.3539T>G MANE Select	NP_004644.2:p.Val1180Gly
NM_001146705.2:c.3632T>G	NP_001140177.1:p.Val1211Gly