Canonical Allele Identifier: CA414840189

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21868000T>C (hg19) ; chrY:g.19706114T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706114T>C , CM000686.2:g.19706114T>C	GRCh38
NC_000024.9:g.21868000T>C , CM000686.1:g.21868000T>C	GRCh37
NC_000024.8:g.20327388T>C	NCBI36
NG_032920.1:g.43826A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4501A>G MANE Select	ENSP00000322408.4:p.Ser1501Gly
ENST00000317961.8:c.4501A>G	ENSP00000322408.4:p.Ser1501Gly
ENST00000382806.6:c.4330A>G	ENSP00000372256.2:p.Ser1444Gly
ENST00000440077.5:c.4378A>G	ENSP00000398543.1:p.Ser1460Gly
ENST00000469599.6:n.3252A>G
ENST00000492117.1:n.4546A>G
ENST00000541639.5:c.4594A>G	ENSP00000444293.1:p.Ser1532Gly
NM_001146705.1:c.4594A>G	NP_001140177.1:p.Ser1532Gly
NM_001146706.1:c.4330A>G	NP_001140178.1:p.Ser1444Gly
NM_004653.4:c.4501A>G	NP_004644.2:p.Ser1501Gly
XM_005262560.1:c.4366A>G	XP_005262617.1:p.Ser1456Gly
XM_005262561.1:c.4270A>G	XP_005262618.1:p.Ser1424Gly
XM_011531468.1:c.4423A>G	XP_011529770.1:p.Ser1475Gly
XR_430568.2:n.5276A>G
XM_005262560.3:c.4366A>G	XP_005262617.1:p.Ser1456Gly
XM_005262561.3:c.4270A>G	XP_005262618.1:p.Ser1424Gly
XM_011531468.3:c.4423A>G	XP_011529770.1:p.Ser1475Gly
XM_024452495.1:c.2491A>G	XP_024308263.1:p.Ser831Gly
XM_024452496.1:c.2257A>G	XP_024308264.1:p.Ser753Gly
XR_001756009.2:n.5239A>G
XR_001756010.2:n.5207A>G
XR_001756011.2:n.5104A>G
XR_001756012.2:n.5252A>G
XR_001756013.2:n.4570A>G
XR_002958832.1:n.4824A>G
XR_002958834.1:n.4895A>G
XR_002958835.1:n.4778A>G
XR_002958836.1:n.5429A>G
XR_002958837.1:n.5236A>G
XR_244571.4:n.4756A>G
XR_430568.4:n.5275A>G
NM_001146706.2:c.4330A>G	NP_001140178.1:p.Ser1444Gly
NM_004653.5:c.4501A>G MANE Select	NP_004644.2:p.Ser1501Gly
NM_001146705.2:c.4594A>G	NP_001140177.1:p.Ser1532Gly