Canonical Allele Identifier: CA414840217

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21868006C>G (hg19) ; chrY:g.19706120C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706120C>G , CM000686.2:g.19706120C>G	GRCh38
NC_000024.9:g.21868006C>G , CM000686.1:g.21868006C>G	GRCh37
NC_000024.8:g.20327394C>G	NCBI36
NG_032920.1:g.43820G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4495G>C MANE Select	ENSP00000322408.4:p.Asp1499His
ENST00000317961.8:c.4495G>C	ENSP00000322408.4:p.Asp1499His
ENST00000382806.6:c.4324G>C	ENSP00000372256.2:p.Asp1442His
ENST00000440077.5:c.4372G>C	ENSP00000398543.1:p.Asp1458His
ENST00000469599.6:n.3246G>C
ENST00000492117.1:n.4540G>C
ENST00000541639.5:c.4588G>C	ENSP00000444293.1:p.Asp1530His
NM_001146705.1:c.4588G>C	NP_001140177.1:p.Asp1530His
NM_001146706.1:c.4324G>C	NP_001140178.1:p.Asp1442His
NM_004653.4:c.4495G>C	NP_004644.2:p.Asp1499His
XM_005262560.1:c.4360G>C	XP_005262617.1:p.Asp1454His
XM_005262561.1:c.4264G>C	XP_005262618.1:p.Asp1422His
XM_011531468.1:c.4417G>C	XP_011529770.1:p.Asp1473His
XR_430568.2:n.5270G>C
XM_005262560.3:c.4360G>C	XP_005262617.1:p.Asp1454His
XM_005262561.3:c.4264G>C	XP_005262618.1:p.Asp1422His
XM_011531468.3:c.4417G>C	XP_011529770.1:p.Asp1473His
XM_024452495.1:c.2485G>C	XP_024308263.1:p.Asp829His
XM_024452496.1:c.2251G>C	XP_024308264.1:p.Asp751His
XR_001756009.2:n.5233G>C
XR_001756010.2:n.5201G>C
XR_001756011.2:n.5098G>C
XR_001756012.2:n.5246G>C
XR_001756013.2:n.4564G>C
XR_002958832.1:n.4818G>C
XR_002958834.1:n.4889G>C
XR_002958835.1:n.4772G>C
XR_002958836.1:n.5423G>C
XR_002958837.1:n.5230G>C
XR_244571.4:n.4750G>C
XR_430568.4:n.5269G>C
NM_001146706.2:c.4324G>C	NP_001140178.1:p.Asp1442His
NM_004653.5:c.4495G>C MANE Select	NP_004644.2:p.Asp1499His
NM_001146705.2:c.4588G>C	NP_001140177.1:p.Asp1530His