Canonical Allele Identifier: CA414843293

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869366C>G (hg19) ; chrY:g.19707480C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707480C>G , CM000686.2:g.19707480C>G	GRCh38
NC_000024.9:g.21869366C>G , CM000686.1:g.21869366C>G	GRCh37
NC_000024.8:g.20328754C>G	NCBI36
NG_032920.1:g.42460G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3666G>C MANE Select	ENSP00000322408.4:p.Trp1222Cys
ENST00000317961.8:c.3666G>C	ENSP00000322408.4:p.Trp1222Cys
ENST00000382806.6:c.3495G>C	ENSP00000372256.2:p.Trp1165Cys
ENST00000415360.1:c.582G>C	ENSP00000389433.1:p.Trp194Cys
ENST00000440077.5:c.3543G>C	ENSP00000398543.1:p.Trp1181Cys
ENST00000469599.6:n.2264G>C
ENST00000492117.1:n.3558G>C
ENST00000541639.5:c.3759G>C	ENSP00000444293.1:p.Trp1253Cys
NM_001146705.1:c.3759G>C	NP_001140177.1:p.Trp1253Cys
NM_001146706.1:c.3495G>C	NP_001140178.1:p.Trp1165Cys
NM_004653.4:c.3666G>C	NP_004644.2:p.Trp1222Cys
XM_005262560.1:c.3531G>C	XP_005262617.1:p.Trp1177Cys
XM_005262561.1:c.3435G>C	XP_005262618.1:p.Trp1145Cys
XM_011531468.1:c.3588G>C	XP_011529770.1:p.Trp1196Cys
XR_244571.2:n.3954G>C
XR_430568.2:n.4288G>C
XM_005262560.3:c.3531G>C	XP_005262617.1:p.Trp1177Cys
XM_005262561.3:c.3435G>C	XP_005262618.1:p.Trp1145Cys
XM_011531468.3:c.3588G>C	XP_011529770.1:p.Trp1196Cys
XM_024452495.1:c.1656G>C	XP_024308263.1:p.Trp552Cys
XM_024452496.1:c.1422G>C	XP_024308264.1:p.Trp474Cys
XR_001756009.2:n.4404G>C
XR_001756010.2:n.4404G>C
XR_001756011.2:n.4269G>C
XR_001756012.2:n.4417G>C
XR_001756013.2:n.3735G>C
XR_002958832.1:n.3836G>C
XR_002958834.1:n.4060G>C
XR_002958835.1:n.3943G>C
XR_002958836.1:n.4626G>C
XR_002958837.1:n.4433G>C
XR_244571.4:n.3953G>C
XR_430568.4:n.4287G>C
NM_001146706.2:c.3495G>C	NP_001140178.1:p.Trp1165Cys
NM_004653.5:c.3666G>C MANE Select	NP_004644.2:p.Trp1222Cys
NM_001146705.2:c.3759G>C	NP_001140177.1:p.Trp1253Cys