Canonical Allele Identifier: CA414843330

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869379G>A (hg19) ; chrY:g.19707493G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707493G>A , CM000686.2:g.19707493G>A	GRCh38
NC_000024.9:g.21869379G>A , CM000686.1:g.21869379G>A	GRCh37
NC_000024.8:g.20328767G>A	NCBI36
NG_032920.1:g.42447C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3653C>T MANE Select	ENSP00000322408.4:p.Pro1218Leu
ENST00000317961.8:c.3653C>T	ENSP00000322408.4:p.Pro1218Leu
ENST00000382806.6:c.3482C>T	ENSP00000372256.2:p.Pro1161Leu
ENST00000415360.1:c.569C>T	ENSP00000389433.1:p.Pro190Leu
ENST00000440077.5:c.3530C>T	ENSP00000398543.1:p.Pro1177Leu
ENST00000469599.6:n.2251C>T
ENST00000492117.1:n.3545C>T
ENST00000541639.5:c.3746C>T	ENSP00000444293.1:p.Pro1249Leu
NM_001146705.1:c.3746C>T	NP_001140177.1:p.Pro1249Leu
NM_001146706.1:c.3482C>T	NP_001140178.1:p.Pro1161Leu
NM_004653.4:c.3653C>T	NP_004644.2:p.Pro1218Leu
XM_005262560.1:c.3518C>T	XP_005262617.1:p.Pro1173Leu
XM_005262561.1:c.3422C>T	XP_005262618.1:p.Pro1141Leu
XM_011531468.1:c.3575C>T	XP_011529770.1:p.Pro1192Leu
XR_244571.2:n.3941C>T
XR_430568.2:n.4275C>T
XM_005262560.3:c.3518C>T	XP_005262617.1:p.Pro1173Leu
XM_005262561.3:c.3422C>T	XP_005262618.1:p.Pro1141Leu
XM_011531468.3:c.3575C>T	XP_011529770.1:p.Pro1192Leu
XM_024452495.1:c.1643C>T	XP_024308263.1:p.Pro548Leu
XM_024452496.1:c.1409C>T	XP_024308264.1:p.Pro470Leu
XR_001756009.2:n.4391C>T
XR_001756010.2:n.4391C>T
XR_001756011.2:n.4256C>T
XR_001756012.2:n.4404C>T
XR_001756013.2:n.3722C>T
XR_002958832.1:n.3823C>T
XR_002958834.1:n.4047C>T
XR_002958835.1:n.3930C>T
XR_002958836.1:n.4613C>T
XR_002958837.1:n.4420C>T
XR_244571.4:n.3940C>T
XR_430568.4:n.4274C>T
NM_001146706.2:c.3482C>T	NP_001140178.1:p.Pro1161Leu
NM_004653.5:c.3653C>T MANE Select	NP_004644.2:p.Pro1218Leu
NM_001146705.2:c.3746C>T	NP_001140177.1:p.Pro1249Leu