Canonical Allele Identifier: CA414844072

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869588G>C (hg19) ; chrY:g.19707702G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707702G>C , CM000686.2:g.19707702G>C	GRCh38
NC_000024.9:g.21869588G>C , CM000686.1:g.21869588G>C	GRCh37
NC_000024.8:g.20328976G>C	NCBI36
NG_032920.1:g.42238C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3444C>G MANE Select	ENSP00000322408.4:p.Ile1148Met
ENST00000317961.8:c.3444C>G	ENSP00000322408.4:p.Ile1148Met
ENST00000382806.6:c.3273C>G	ENSP00000372256.2:p.Ile1091Met
ENST00000415360.1:c.360C>G	ENSP00000389433.1:p.Ile120Met
ENST00000440077.5:c.3321C>G	ENSP00000398543.1:p.Ile1107Met
ENST00000469599.6:n.2042C>G
ENST00000492117.1:n.3336C>G
ENST00000541639.5:c.3537C>G	ENSP00000444293.1:p.Ile1179Met
NM_001146705.1:c.3537C>G	NP_001140177.1:p.Ile1179Met
NM_001146706.1:c.3273C>G	NP_001140178.1:p.Ile1091Met
NM_004653.4:c.3444C>G	NP_004644.2:p.Ile1148Met
XM_005262560.1:c.3309C>G	XP_005262617.1:p.Ile1103Met
XM_005262561.1:c.3213C>G	XP_005262618.1:p.Ile1071Met
XM_011531468.1:c.3366C>G	XP_011529770.1:p.Ile1122Met
XR_244571.2:n.3732C>G
XR_430568.2:n.4066C>G
XM_005262560.3:c.3309C>G	XP_005262617.1:p.Ile1103Met
XM_005262561.3:c.3213C>G	XP_005262618.1:p.Ile1071Met
XM_011531468.3:c.3366C>G	XP_011529770.1:p.Ile1122Met
XM_024452495.1:c.1434C>G	XP_024308263.1:p.Ile478Met
XM_024452496.1:c.1200C>G	XP_024308264.1:p.Ile400Met
XR_001756009.2:n.4182C>G
XR_001756010.2:n.4182C>G
XR_001756011.2:n.4047C>G
XR_001756012.2:n.4195C>G
XR_001756013.2:n.3513C>G
XR_002958832.1:n.3614C>G
XR_002958834.1:n.3838C>G
XR_002958835.1:n.3721C>G
XR_002958836.1:n.4404C>G
XR_002958837.1:n.4211C>G
XR_244571.4:n.3731C>G
XR_430568.4:n.4065C>G
NM_001146706.2:c.3273C>G	NP_001140178.1:p.Ile1091Met
NM_004653.5:c.3444C>G MANE Select	NP_004644.2:p.Ile1148Met
NM_001146705.2:c.3537C>G	NP_001140177.1:p.Ile1179Met