Canonical Allele Identifier: CA414843534

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869437G>A (hg19) ; chrY:g.19707551G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707551G>A , CM000686.2:g.19707551G>A	GRCh38
NC_000024.9:g.21869437G>A , CM000686.1:g.21869437G>A	GRCh37
NC_000024.8:g.20328825G>A	NCBI36
NG_032920.1:g.42389C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3595C>T MANE Select	ENSP00000322408.4:p.Gln1199Ter
ENST00000317961.8:c.3595C>T	ENSP00000322408.4:p.Gln1199Ter
ENST00000382806.6:c.3424C>T	ENSP00000372256.2:p.Gln1142Ter
ENST00000415360.1:c.511C>T	ENSP00000389433.1:p.Gln171Ter
ENST00000440077.5:c.3472C>T	ENSP00000398543.1:p.Gln1158Ter
ENST00000469599.6:n.2193C>T
ENST00000492117.1:n.3487C>T
ENST00000541639.5:c.3688C>T	ENSP00000444293.1:p.Gln1230Ter
NM_001146705.1:c.3688C>T	NP_001140177.1:p.Gln1230Ter
NM_001146706.1:c.3424C>T	NP_001140178.1:p.Gln1142Ter
NM_004653.4:c.3595C>T	NP_004644.2:p.Gln1199Ter
XM_005262560.1:c.3460C>T	XP_005262617.1:p.Gln1154Ter
XM_005262561.1:c.3364C>T	XP_005262618.1:p.Gln1122Ter
XM_011531468.1:c.3517C>T	XP_011529770.1:p.Gln1173Ter
XR_244571.2:n.3883C>T
XR_430568.2:n.4217C>T
XM_005262560.3:c.3460C>T	XP_005262617.1:p.Gln1154Ter
XM_005262561.3:c.3364C>T	XP_005262618.1:p.Gln1122Ter
XM_011531468.3:c.3517C>T	XP_011529770.1:p.Gln1173Ter
XM_024452495.1:c.1585C>T	XP_024308263.1:p.Gln529Ter
XM_024452496.1:c.1351C>T	XP_024308264.1:p.Gln451Ter
XR_001756009.2:n.4333C>T
XR_001756010.2:n.4333C>T
XR_001756011.2:n.4198C>T
XR_001756012.2:n.4346C>T
XR_001756013.2:n.3664C>T
XR_002958832.1:n.3765C>T
XR_002958834.1:n.3989C>T
XR_002958835.1:n.3872C>T
XR_002958836.1:n.4555C>T
XR_002958837.1:n.4362C>T
XR_244571.4:n.3882C>T
XR_430568.4:n.4216C>T
NM_001146706.2:c.3424C>T	NP_001140178.1:p.Gln1142Ter
NM_004653.5:c.3595C>T MANE Select	NP_004644.2:p.Gln1199Ter
NM_001146705.2:c.3688C>T	NP_001140177.1:p.Gln1230Ter