Canonical Allele Identifier: CA520160799

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869820C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707934C>G , CM000686.2:g.19707934C>G	GRCh38
NC_000024.9:g.21869820C>G , CM000686.1:g.21869820C>G	GRCh37
NC_000024.8:g.20329208C>G	NCBI36
NG_032920.1:g.42006G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000317961.9:c.3399G>C MANE Select	ENSP00000322408.4:p.Val1133=
ENST00000317961.8:c.3399G>C	ENSP00000322408.4:p.Val1133=
ENST00000382806.6:c.3228G>C	ENSP00000372256.2:p.Val1076=
ENST00000415360.1:c.315G>C	ENSP00000389433.1:p.Val105=
ENST00000440077.5:c.3276G>C	ENSP00000398543.1:p.Val1092=
ENST00000469599.6:n.1997G>C
ENST00000492117.1:n.3291G>C
ENST00000541639.5:c.3492G>C	ENSP00000444293.1:p.Val1164=
NM_001146705.1:c.3492G>C	NP_001140177.1:p.Val1164=
NM_001146706.1:c.3228G>C	NP_001140178.1:p.Val1076=
NM_004653.4:c.3399G>C	NP_004644.2:p.Val1133=
XM_005262560.1:c.3264G>C	XP_005262617.1:p.Val1088=
XM_005262561.1:c.3168G>C	XP_005262618.1:p.Val1056=
XM_011531468.1:c.3321G>C	XP_011529770.1:p.Val1107=
XR_244571.2:n.3687G>C
XR_430568.2:n.4021G>C
XM_005262560.3:c.3264G>C	XP_005262617.1:p.Val1088=
XM_005262561.3:c.3168G>C	XP_005262618.1:p.Val1056=
XM_011531468.3:c.3321G>C	XP_011529770.1:p.Val1107=
XM_024452495.1:c.1389G>C	XP_024308263.1:p.Val463=
XM_024452496.1:c.1155G>C	XP_024308264.1:p.Val385=
XR_001756009.2:n.4137G>C
XR_001756010.2:n.4137G>C
XR_001756011.2:n.4002G>C
XR_001756012.2:n.4150G>C
XR_001756013.2:n.3468G>C
XR_002958832.1:n.3569G>C
XR_002958834.1:n.3793G>C
XR_002958835.1:n.3676G>C
XR_002958836.1:n.4359G>C
XR_002958837.1:n.4166G>C
XR_244571.4:n.3686G>C
XR_430568.4:n.4020G>C
NM_001146706.2:c.3228G>C	NP_001140178.1:p.Val1076=
NM_004653.5:c.3399G>C MANE Select	NP_004644.2:p.Val1133=
NM_001146705.2:c.3492G>C	NP_001140177.1:p.Val1164=