Canonical Allele Identifier: CA414843234

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869353T>C (hg19) ; chrY:g.19707467T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707467T>C , CM000686.2:g.19707467T>C	GRCh38
NC_000024.9:g.21869353T>C , CM000686.1:g.21869353T>C	GRCh37
NC_000024.8:g.20328741T>C	NCBI36
NG_032920.1:g.42473A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3679A>G MANE Select	ENSP00000322408.4:p.Thr1227Ala
ENST00000317961.8:c.3679A>G	ENSP00000322408.4:p.Thr1227Ala
ENST00000382806.6:c.3508A>G	ENSP00000372256.2:p.Thr1170Ala
ENST00000415360.1:c.595A>G	ENSP00000389433.1:p.Thr199Ala
ENST00000440077.5:c.3556A>G	ENSP00000398543.1:p.Thr1186Ala
ENST00000469599.6:n.2277A>G
ENST00000492117.1:n.3571A>G
ENST00000541639.5:c.3772A>G	ENSP00000444293.1:p.Thr1258Ala
NM_001146705.1:c.3772A>G	NP_001140177.1:p.Thr1258Ala
NM_001146706.1:c.3508A>G	NP_001140178.1:p.Thr1170Ala
NM_004653.4:c.3679A>G	NP_004644.2:p.Thr1227Ala
XM_005262560.1:c.3544A>G	XP_005262617.1:p.Thr1182Ala
XM_005262561.1:c.3448A>G	XP_005262618.1:p.Thr1150Ala
XM_011531468.1:c.3601A>G	XP_011529770.1:p.Thr1201Ala
XR_244571.2:n.3967A>G
XR_430568.2:n.4301A>G
XM_005262560.3:c.3544A>G	XP_005262617.1:p.Thr1182Ala
XM_005262561.3:c.3448A>G	XP_005262618.1:p.Thr1150Ala
XM_011531468.3:c.3601A>G	XP_011529770.1:p.Thr1201Ala
XM_024452495.1:c.1669A>G	XP_024308263.1:p.Thr557Ala
XM_024452496.1:c.1435A>G	XP_024308264.1:p.Thr479Ala
XR_001756009.2:n.4417A>G
XR_001756010.2:n.4417A>G
XR_001756011.2:n.4282A>G
XR_001756012.2:n.4430A>G
XR_001756013.2:n.3748A>G
XR_002958832.1:n.3849A>G
XR_002958834.1:n.4073A>G
XR_002958835.1:n.3956A>G
XR_002958836.1:n.4639A>G
XR_002958837.1:n.4446A>G
XR_244571.4:n.3966A>G
XR_430568.4:n.4300A>G
NM_001146706.2:c.3508A>G	NP_001140178.1:p.Thr1170Ala
NM_004653.5:c.3679A>G MANE Select	NP_004644.2:p.Thr1227Ala
NM_001146705.2:c.3772A>G	NP_001140177.1:p.Thr1258Ala