Canonical Allele Identifier: CA414844192

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869629C>T (hg19) ; chrY:g.19707743C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707743C>T , CM000686.2:g.19707743C>T	GRCh38
NC_000024.9:g.21869629C>T , CM000686.1:g.21869629C>T	GRCh37
NC_000024.8:g.20329017C>T	NCBI36
NG_032920.1:g.42197G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3403G>A MANE Select	ENSP00000322408.4:p.Val1135Met
ENST00000317961.8:c.3403G>A	ENSP00000322408.4:p.Val1135Met
ENST00000382806.6:c.3232G>A	ENSP00000372256.2:p.Val1078Met
ENST00000415360.1:c.319G>A	ENSP00000389433.1:p.Val107Met
ENST00000440077.5:c.3280G>A	ENSP00000398543.1:p.Val1094Met
ENST00000469599.6:n.2001G>A
ENST00000492117.1:n.3295G>A
ENST00000541639.5:c.3496G>A	ENSP00000444293.1:p.Val1166Met
NM_001146705.1:c.3496G>A	NP_001140177.1:p.Val1166Met
NM_001146706.1:c.3232G>A	NP_001140178.1:p.Val1078Met
NM_004653.4:c.3403G>A	NP_004644.2:p.Val1135Met
XM_005262560.1:c.3268G>A	XP_005262617.1:p.Val1090Met
XM_005262561.1:c.3172G>A	XP_005262618.1:p.Val1058Met
XM_011531468.1:c.3325G>A	XP_011529770.1:p.Val1109Met
XR_244571.2:n.3691G>A
XR_430568.2:n.4025G>A
XM_005262560.3:c.3268G>A	XP_005262617.1:p.Val1090Met
XM_005262561.3:c.3172G>A	XP_005262618.1:p.Val1058Met
XM_011531468.3:c.3325G>A	XP_011529770.1:p.Val1109Met
XM_024452495.1:c.1393G>A	XP_024308263.1:p.Val465Met
XM_024452496.1:c.1159G>A	XP_024308264.1:p.Val387Met
XR_001756009.2:n.4141G>A
XR_001756010.2:n.4141G>A
XR_001756011.2:n.4006G>A
XR_001756012.2:n.4154G>A
XR_001756013.2:n.3472G>A
XR_002958832.1:n.3573G>A
XR_002958834.1:n.3797G>A
XR_002958835.1:n.3680G>A
XR_002958836.1:n.4363G>A
XR_002958837.1:n.4170G>A
XR_244571.4:n.3690G>A
XR_430568.4:n.4024G>A
NM_001146706.2:c.3232G>A	NP_001140178.1:p.Val1078Met
NM_004653.5:c.3403G>A MANE Select	NP_004644.2:p.Val1135Met
NM_001146705.2:c.3496G>A	NP_001140177.1:p.Val1166Met