Canonical Allele Identifier: CA414843846

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869517G>A (hg19) ; chrY:g.19707631G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707631G>A , CM000686.2:g.19707631G>A	GRCh38
NC_000024.9:g.21869517G>A , CM000686.1:g.21869517G>A	GRCh37
NC_000024.8:g.20328905G>A	NCBI36
NG_032920.1:g.42309C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3515C>T MANE Select	ENSP00000322408.4:p.Thr1172Ile
ENST00000317961.8:c.3515C>T	ENSP00000322408.4:p.Thr1172Ile
ENST00000382806.6:c.3344C>T	ENSP00000372256.2:p.Thr1115Ile
ENST00000415360.1:c.431C>T	ENSP00000389433.1:p.Thr144Ile
ENST00000440077.5:c.3392C>T	ENSP00000398543.1:p.Thr1131Ile
ENST00000469599.6:n.2113C>T
ENST00000492117.1:n.3407C>T
ENST00000541639.5:c.3608C>T	ENSP00000444293.1:p.Thr1203Ile
NM_001146705.1:c.3608C>T	NP_001140177.1:p.Thr1203Ile
NM_001146706.1:c.3344C>T	NP_001140178.1:p.Thr1115Ile
NM_004653.4:c.3515C>T	NP_004644.2:p.Thr1172Ile
XM_005262560.1:c.3380C>T	XP_005262617.1:p.Thr1127Ile
XM_005262561.1:c.3284C>T	XP_005262618.1:p.Thr1095Ile
XM_011531468.1:c.3437C>T	XP_011529770.1:p.Thr1146Ile
XR_244571.2:n.3803C>T
XR_430568.2:n.4137C>T
XM_005262560.3:c.3380C>T	XP_005262617.1:p.Thr1127Ile
XM_005262561.3:c.3284C>T	XP_005262618.1:p.Thr1095Ile
XM_011531468.3:c.3437C>T	XP_011529770.1:p.Thr1146Ile
XM_024452495.1:c.1505C>T	XP_024308263.1:p.Thr502Ile
XM_024452496.1:c.1271C>T	XP_024308264.1:p.Thr424Ile
XR_001756009.2:n.4253C>T
XR_001756010.2:n.4253C>T
XR_001756011.2:n.4118C>T
XR_001756012.2:n.4266C>T
XR_001756013.2:n.3584C>T
XR_002958832.1:n.3685C>T
XR_002958834.1:n.3909C>T
XR_002958835.1:n.3792C>T
XR_002958836.1:n.4475C>T
XR_002958837.1:n.4282C>T
XR_244571.4:n.3802C>T
XR_430568.4:n.4136C>T
NM_001146706.2:c.3344C>T	NP_001140178.1:p.Thr1115Ile
NM_004653.5:c.3515C>T MANE Select	NP_004644.2:p.Thr1172Ile
NM_001146705.2:c.3608C>T	NP_001140177.1:p.Thr1203Ile