Canonical Allele Identifier: CA414839959

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21867945G>C (hg19) ; chrY:g.19706059G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706059G>C , CM000686.2:g.19706059G>C	GRCh38
NC_000024.9:g.21867945G>C , CM000686.1:g.21867945G>C	GRCh37
NC_000024.8:g.20327333G>C	NCBI36
NG_032920.1:g.43881C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4556C>G MANE Select	ENSP00000322408.4:p.Ser1519Ter
ENST00000317961.8:c.4556C>G	ENSP00000322408.4:p.Ser1519Ter
ENST00000382806.6:c.4385C>G	ENSP00000372256.2:p.Ser1462Ter
ENST00000469599.6:n.3307C>G
ENST00000492117.1:n.4601C>G
ENST00000541639.5:c.4649C>G	ENSP00000444293.1:p.Ser1550Ter
NM_001146705.1:c.4649C>G	NP_001140177.1:p.Ser1550Ter
NM_001146706.1:c.4385C>G	NP_001140178.1:p.Ser1462Ter
NM_004653.4:c.4556C>G	NP_004644.2:p.Ser1519Ter
XM_005262560.1:c.4421C>G	XP_005262617.1:p.Ser1474Ter
XM_005262561.1:c.4325C>G	XP_005262618.1:p.Ser1442Ter
XM_011531468.1:c.4478C>G	XP_011529770.1:p.Ser1493Ter
XR_430568.2:n.5331C>G
XM_005262560.3:c.4421C>G	XP_005262617.1:p.Ser1474Ter
XM_005262561.3:c.4325C>G	XP_005262618.1:p.Ser1442Ter
XM_011531468.3:c.4478C>G	XP_011529770.1:p.Ser1493Ter
XM_024452495.1:c.2546C>G	XP_024308263.1:p.Ser849Ter
XM_024452496.1:c.2312C>G	XP_024308264.1:p.Ser771Ter
XR_001756009.2:n.5294C>G
XR_001756010.2:n.5262C>G
XR_001756011.2:n.5159C>G
XR_001756012.2:n.5307C>G
XR_001756013.2:n.4625C>G
XR_002958832.1:n.4879C>G
XR_002958834.1:n.4950C>G
XR_002958835.1:n.4833C>G
XR_002958836.1:n.5484C>G
XR_002958837.1:n.5291C>G
XR_244571.4:n.4811C>G
XR_430568.4:n.5330C>G
NM_001146706.2:c.4385C>G	NP_001140178.1:p.Ser1462Ter
NM_004653.5:c.4556C>G MANE Select	NP_004644.2:p.Ser1519Ter
NM_001146705.2:c.4649C>G	NP_001140177.1:p.Ser1550Ter