Canonical Allele Identifier: CA414843233

Gene: KDM5D

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3679A>C MANE Select	ENSP00000322408.4:p.Thr1227Pro
ENST00000317961.8:c.3679A>C	ENSP00000322408.4:p.Thr1227Pro
ENST00000382806.6:c.3508A>C	ENSP00000372256.2:p.Thr1170Pro
ENST00000415360.1:c.595A>C	ENSP00000389433.1:p.Thr199Pro
ENST00000440077.5:c.3556A>C	ENSP00000398543.1:p.Thr1186Pro
ENST00000469599.6:n.2277A>C
ENST00000492117.1:n.3571A>C
ENST00000541639.5:c.3772A>C	ENSP00000444293.1:p.Thr1258Pro
NM_001146705.1:c.3772A>C	NP_001140177.1:p.Thr1258Pro
NM_001146706.1:c.3508A>C	NP_001140178.1:p.Thr1170Pro
NM_004653.4:c.3679A>C	NP_004644.2:p.Thr1227Pro
XM_005262560.1:c.3544A>C	XP_005262617.1:p.Thr1182Pro
XM_005262561.1:c.3448A>C	XP_005262618.1:p.Thr1150Pro
XM_011531468.1:c.3601A>C	XP_011529770.1:p.Thr1201Pro
XR_244571.2:n.3967A>C
XR_430568.2:n.4301A>C
XM_005262560.3:c.3544A>C	XP_005262617.1:p.Thr1182Pro
XM_005262561.3:c.3448A>C	XP_005262618.1:p.Thr1150Pro
XM_011531468.3:c.3601A>C	XP_011529770.1:p.Thr1201Pro
XM_024452495.1:c.1669A>C	XP_024308263.1:p.Thr557Pro
XM_024452496.1:c.1435A>C	XP_024308264.1:p.Thr479Pro
XR_001756009.2:n.4417A>C
XR_001756010.2:n.4417A>C
XR_001756011.2:n.4282A>C
XR_001756012.2:n.4430A>C
XR_001756013.2:n.3748A>C
XR_002958832.1:n.3849A>C
XR_002958834.1:n.4073A>C
XR_002958835.1:n.3956A>C
XR_002958836.1:n.4639A>C
XR_002958837.1:n.4446A>C
XR_244571.4:n.3966A>C
XR_430568.4:n.4300A>C
NM_001146706.2:c.3508A>C	NP_001140178.1:p.Thr1170Pro
NM_004653.5:c.3679A>C MANE Select	NP_004644.2:p.Thr1227Pro
NM_001146705.2:c.3772A>C	NP_001140177.1:p.Thr1258Pro