Canonical Allele Identifier: CA414843149

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869327C>T (hg19) ; chrY:g.19707441C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707441C>T , CM000686.2:g.19707441C>T	GRCh38
NC_000024.9:g.21869327C>T , CM000686.1:g.21869327C>T	GRCh37
NC_000024.8:g.20328715C>T	NCBI36
NG_032920.1:g.42499G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3705G>A MANE Select	ENSP00000322408.4:p.Met1235Ile
ENST00000317961.8:c.3705G>A	ENSP00000322408.4:p.Met1235Ile
ENST00000382806.6:c.3534G>A	ENSP00000372256.2:p.Met1178Ile
ENST00000415360.1:c.621G>A	ENSP00000389433.1:p.Met207Ile
ENST00000440077.5:c.3582G>A	ENSP00000398543.1:p.Met1194Ile
ENST00000469599.6:n.2303G>A
ENST00000492117.1:n.3597G>A
ENST00000541639.5:c.3798G>A	ENSP00000444293.1:p.Met1266Ile
NM_001146705.1:c.3798G>A	NP_001140177.1:p.Met1266Ile
NM_001146706.1:c.3534G>A	NP_001140178.1:p.Met1178Ile
NM_004653.4:c.3705G>A	NP_004644.2:p.Met1235Ile
XM_005262560.1:c.3570G>A	XP_005262617.1:p.Met1190Ile
XM_005262561.1:c.3474G>A	XP_005262618.1:p.Met1158Ile
XM_011531468.1:c.3627G>A	XP_011529770.1:p.Met1209Ile
XR_244571.2:n.3993G>A
XR_430568.2:n.4327G>A
XM_005262560.3:c.3570G>A	XP_005262617.1:p.Met1190Ile
XM_005262561.3:c.3474G>A	XP_005262618.1:p.Met1158Ile
XM_011531468.3:c.3627G>A	XP_011529770.1:p.Met1209Ile
XM_024452495.1:c.1695G>A	XP_024308263.1:p.Met565Ile
XM_024452496.1:c.1461G>A	XP_024308264.1:p.Met487Ile
XR_001756009.2:n.4443G>A
XR_001756010.2:n.4443G>A
XR_001756011.2:n.4308G>A
XR_001756012.2:n.4456G>A
XR_001756013.2:n.3774G>A
XR_002958832.1:n.3875G>A
XR_002958834.1:n.4099G>A
XR_002958835.1:n.3982G>A
XR_002958836.1:n.4665G>A
XR_002958837.1:n.4472G>A
XR_244571.4:n.3992G>A
XR_430568.4:n.4326G>A
NM_001146706.2:c.3534G>A	NP_001140178.1:p.Met1178Ile
NM_004653.5:c.3705G>A MANE Select	NP_004644.2:p.Met1235Ile
NM_001146705.2:c.3798G>A	NP_001140177.1:p.Met1266Ile