Canonical Allele Identifier: CA414844190

Gene: KDM5D

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3403G>T MANE Select	ENSP00000322408.4:p.Val1135Leu
ENST00000317961.8:c.3403G>T	ENSP00000322408.4:p.Val1135Leu
ENST00000382806.6:c.3232G>T	ENSP00000372256.2:p.Val1078Leu
ENST00000415360.1:c.319G>T	ENSP00000389433.1:p.Val107Leu
ENST00000440077.5:c.3280G>T	ENSP00000398543.1:p.Val1094Leu
ENST00000469599.6:n.2001G>T
ENST00000492117.1:n.3295G>T
ENST00000541639.5:c.3496G>T	ENSP00000444293.1:p.Val1166Leu
NM_001146705.1:c.3496G>T	NP_001140177.1:p.Val1166Leu
NM_001146706.1:c.3232G>T	NP_001140178.1:p.Val1078Leu
NM_004653.4:c.3403G>T	NP_004644.2:p.Val1135Leu
XM_005262560.1:c.3268G>T	XP_005262617.1:p.Val1090Leu
XM_005262561.1:c.3172G>T	XP_005262618.1:p.Val1058Leu
XM_011531468.1:c.3325G>T	XP_011529770.1:p.Val1109Leu
XR_244571.2:n.3691G>T
XR_430568.2:n.4025G>T
XM_005262560.3:c.3268G>T	XP_005262617.1:p.Val1090Leu
XM_005262561.3:c.3172G>T	XP_005262618.1:p.Val1058Leu
XM_011531468.3:c.3325G>T	XP_011529770.1:p.Val1109Leu
XM_024452495.1:c.1393G>T	XP_024308263.1:p.Val465Leu
XM_024452496.1:c.1159G>T	XP_024308264.1:p.Val387Leu
XR_001756009.2:n.4141G>T
XR_001756010.2:n.4141G>T
XR_001756011.2:n.4006G>T
XR_001756012.2:n.4154G>T
XR_001756013.2:n.3472G>T
XR_002958832.1:n.3573G>T
XR_002958834.1:n.3797G>T
XR_002958835.1:n.3680G>T
XR_002958836.1:n.4363G>T
XR_002958837.1:n.4170G>T
XR_244571.4:n.3690G>T
XR_430568.4:n.4024G>T
NM_001146706.2:c.3232G>T	NP_001140178.1:p.Val1078Leu
NM_004653.5:c.3403G>T MANE Select	NP_004644.2:p.Val1135Leu
NM_001146705.2:c.3496G>T	NP_001140177.1:p.Val1166Leu