Canonical Allele Identifier: CA414840103

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21867979G>C (hg19) ; chrY:g.19706093G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706093G>C , CM000686.2:g.19706093G>C	GRCh38
NC_000024.9:g.21867979G>C , CM000686.1:g.21867979G>C	GRCh37
NC_000024.8:g.20327367G>C	NCBI36
NG_032920.1:g.43847C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4522C>G MANE Select	ENSP00000322408.4:p.Gln1508Glu
ENST00000317961.8:c.4522C>G	ENSP00000322408.4:p.Gln1508Glu
ENST00000382806.6:c.4351C>G	ENSP00000372256.2:p.Gln1451Glu
ENST00000440077.5:c.4399C>G	ENSP00000398543.1:p.Gln1467Glu
ENST00000469599.6:n.3273C>G
ENST00000492117.1:n.4567C>G
ENST00000541639.5:c.4615C>G	ENSP00000444293.1:p.Gln1539Glu
NM_001146705.1:c.4615C>G	NP_001140177.1:p.Gln1539Glu
NM_001146706.1:c.4351C>G	NP_001140178.1:p.Gln1451Glu
NM_004653.4:c.4522C>G	NP_004644.2:p.Gln1508Glu
XM_005262560.1:c.4387C>G	XP_005262617.1:p.Gln1463Glu
XM_005262561.1:c.4291C>G	XP_005262618.1:p.Gln1431Glu
XM_011531468.1:c.4444C>G	XP_011529770.1:p.Gln1482Glu
XR_430568.2:n.5297C>G
XM_005262560.3:c.4387C>G	XP_005262617.1:p.Gln1463Glu
XM_005262561.3:c.4291C>G	XP_005262618.1:p.Gln1431Glu
XM_011531468.3:c.4444C>G	XP_011529770.1:p.Gln1482Glu
XM_024452495.1:c.2512C>G	XP_024308263.1:p.Gln838Glu
XM_024452496.1:c.2278C>G	XP_024308264.1:p.Gln760Glu
XR_001756009.2:n.5260C>G
XR_001756010.2:n.5228C>G
XR_001756011.2:n.5125C>G
XR_001756012.2:n.5273C>G
XR_001756013.2:n.4591C>G
XR_002958832.1:n.4845C>G
XR_002958834.1:n.4916C>G
XR_002958835.1:n.4799C>G
XR_002958836.1:n.5450C>G
XR_002958837.1:n.5257C>G
XR_244571.4:n.4777C>G
XR_430568.4:n.5296C>G
NM_001146706.2:c.4351C>G	NP_001140178.1:p.Gln1451Glu
NM_004653.5:c.4522C>G MANE Select	NP_004644.2:p.Gln1508Glu
NM_001146705.2:c.4615C>G	NP_001140177.1:p.Gln1539Glu