Canonical Allele Identifier: CA923788600

Gene: KDM5D

Linked Data

• gnomAD v3: Y-19705812-G-C
• gnomAD v4: Y-19705812-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19705812G>C , CM000686.2:g.19705812G>C	GRCh38
NC_000024.9:g.21867698G>C , CM000686.1:g.21867698G>C	GRCh37
NC_000024.8:g.20327086G>C	NCBI36
NG_032920.1:g.44128C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000317961.9:c.*183C>G MANE Select	ENSP00000322408.4:n.*183C>G
ENST00000317961.8:c.*183C>G	ENSP00000322408.4:n.*183C>G
ENST00000382806.6:c.*183C>G	ENSP00000372256.2:n.*183C>G
ENST00000469599.6:n.3554C>G
ENST00000492117.1:n.4848C>G
ENST00000541639.5:c.*183C>G	ENSP00000444293.1:n.*183C>G
NM_001146705.1:c.*183C>G	NP_001140177.1:n.*183C>G
NM_001146706.1:c.*183C>G	NP_001140178.1:n.*183C>G
NM_004653.4:c.*183C>G	NP_004644.2:n.*183C>G
XM_005262560.1:c.*183C>G	XP_005262617.1:n.*183C>G
XM_005262561.1:c.*183C>G	XP_005262618.1:n.*183C>G
XM_011531468.1:c.*183C>G	XP_011529770.1:n.*183C>G
XR_430568.2:n.5578C>G
XM_005262560.3:c.*183C>G	XP_005262617.1:n.*183C>G
XM_005262561.3:c.*183C>G	XP_005262618.1:n.*183C>G
XM_011531468.3:c.*183C>G	XP_011529770.1:n.*183C>G
XM_024452495.1:c.*183C>G	XP_024308263.1:n.*183C>G
XM_024452496.1:c.*183C>G	XP_024308264.1:n.*183C>G
XR_001756009.2:n.5541C>G
XR_001756010.2:n.5509C>G
XR_001756011.2:n.5406C>G
XR_001756012.2:n.5554C>G
XR_001756013.2:n.4872C>G
XR_002958832.1:n.5126C>G
XR_002958834.1:n.5197C>G
XR_002958835.1:n.5080C>G
XR_002958836.1:n.5731C>G
XR_002958837.1:n.5538C>G
XR_244571.4:n.5058C>G
XR_430568.4:n.5577C>G
NM_001146706.2:c.*183C>G	NP_001140178.1:n.*183C>G
NM_004653.5:c.*183C>G MANE Select	NP_004644.2:n.*183C>G
NM_001146705.2:c.*183C>G	NP_001140177.1:n.*183C>G