Canonical Allele Identifier: CA337439783

Gene: KDM5D

Linked Data

• dbSNP Id: rs13304946
• MyVariant Identifiers: chrY:g.21867733A>C (hg19) ; chrY:g.19705847A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19705847A>C , CM000686.2:g.19705847A>C	GRCh38
NC_000024.9:g.21867733A>C , CM000686.1:g.21867733A>C	GRCh37
NC_000024.8:g.20327121A>C	NCBI36
NG_032920.1:g.44093T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000317961.9:c.*148T>G MANE Select	ENSP00000322408.4:n.*148T>G
ENST00000317961.8:c.*148T>G	ENSP00000322408.4:n.*148T>G
ENST00000382806.6:c.*148T>G	ENSP00000372256.2:n.*148T>G
ENST00000469599.6:n.3519T>G
ENST00000492117.1:n.4813T>G
ENST00000541639.5:c.*148T>G	ENSP00000444293.1:n.*148T>G
NM_001146705.1:c.*148T>G	NP_001140177.1:n.*148T>G
NM_001146706.1:c.*148T>G	NP_001140178.1:n.*148T>G
NM_004653.4:c.*148T>G	NP_004644.2:n.*148T>G
XM_005262560.1:c.*148T>G	XP_005262617.1:n.*148T>G
XM_005262561.1:c.*148T>G	XP_005262618.1:n.*148T>G
XM_011531468.1:c.*148T>G	XP_011529770.1:n.*148T>G
XR_430568.2:n.5543T>G
XM_005262560.3:c.*148T>G	XP_005262617.1:n.*148T>G
XM_005262561.3:c.*148T>G	XP_005262618.1:n.*148T>G
XM_011531468.3:c.*148T>G	XP_011529770.1:n.*148T>G
XM_024452495.1:c.*148T>G	XP_024308263.1:n.*148T>G
XM_024452496.1:c.*148T>G	XP_024308264.1:n.*148T>G
XR_001756009.2:n.5506T>G
XR_001756010.2:n.5474T>G
XR_001756011.2:n.5371T>G
XR_001756012.2:n.5519T>G
XR_001756013.2:n.4837T>G
XR_002958832.1:n.5091T>G
XR_002958834.1:n.5162T>G
XR_002958835.1:n.5045T>G
XR_002958836.1:n.5696T>G
XR_002958837.1:n.5503T>G
XR_244571.4:n.5023T>G
XR_430568.4:n.5542T>G
NM_001146706.2:c.*148T>G	NP_001140178.1:n.*148T>G
NM_004653.5:c.*148T>G MANE Select	NP_004644.2:n.*148T>G
NM_001146705.2:c.*148T>G	NP_001140177.1:n.*148T>G