Canonical Allele Identifier: CA520516623

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869423C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707537C>G , CM000686.2:g.19707537C>G	GRCh38
NC_000024.9:g.21869423C>G , CM000686.1:g.21869423C>G	GRCh37
NC_000024.8:g.20328811C>G	NCBI36
NG_032920.1:g.42403G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3609G>C MANE Select	ENSP00000322408.4:p.Val1203=
ENST00000317961.8:c.3609G>C	ENSP00000322408.4:p.Val1203=
ENST00000382806.6:c.3438G>C	ENSP00000372256.2:p.Val1146=
ENST00000415360.1:c.525G>C	ENSP00000389433.1:p.Val175=
ENST00000440077.5:c.3486G>C	ENSP00000398543.1:p.Val1162=
ENST00000469599.6:n.2207G>C
ENST00000492117.1:n.3501G>C
ENST00000541639.5:c.3702G>C	ENSP00000444293.1:p.Val1234=
NM_001146705.1:c.3702G>C	NP_001140177.1:p.Val1234=
NM_001146706.1:c.3438G>C	NP_001140178.1:p.Val1146=
NM_004653.4:c.3609G>C	NP_004644.2:p.Val1203=
XM_005262560.1:c.3474G>C	XP_005262617.1:p.Val1158=
XM_005262561.1:c.3378G>C	XP_005262618.1:p.Val1126=
XM_011531468.1:c.3531G>C	XP_011529770.1:p.Val1177=
XR_244571.2:n.3897G>C
XR_430568.2:n.4231G>C
XM_005262560.3:c.3474G>C	XP_005262617.1:p.Val1158=
XM_005262561.3:c.3378G>C	XP_005262618.1:p.Val1126=
XM_011531468.3:c.3531G>C	XP_011529770.1:p.Val1177=
XM_024452495.1:c.1599G>C	XP_024308263.1:p.Val533=
XM_024452496.1:c.1365G>C	XP_024308264.1:p.Val455=
XR_001756009.2:n.4347G>C
XR_001756010.2:n.4347G>C
XR_001756011.2:n.4212G>C
XR_001756012.2:n.4360G>C
XR_001756013.2:n.3678G>C
XR_002958832.1:n.3779G>C
XR_002958834.1:n.4003G>C
XR_002958835.1:n.3886G>C
XR_002958836.1:n.4569G>C
XR_002958837.1:n.4376G>C
XR_244571.4:n.3896G>C
XR_430568.4:n.4230G>C
NM_001146706.2:c.3438G>C	NP_001140178.1:p.Val1146=
NM_004653.5:c.3609G>C MANE Select	NP_004644.2:p.Val1203=
NM_001146705.2:c.3702G>C	NP_001140177.1:p.Val1234=