Canonical Allele Identifier: CA923788627

Gene: KDM5D

Linked Data

• dbSNP Id: rs1603545674
• gnomAD v3: Y-19705833-G-A
• gnomAD v4: Y-19705833-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19705833G>A , CM000686.2:g.19705833G>A	GRCh38
NC_000024.9:g.21867719G>A , CM000686.1:g.21867719G>A	GRCh37
NC_000024.8:g.20327107G>A	NCBI36
NG_032920.1:g.44107C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000317961.9:c.*162C>T MANE Select	ENSP00000322408.4:n.*162C>T
ENST00000317961.8:c.*162C>T	ENSP00000322408.4:n.*162C>T
ENST00000382806.6:c.*162C>T	ENSP00000372256.2:n.*162C>T
ENST00000469599.6:n.3533C>T
ENST00000492117.1:n.4827C>T
ENST00000541639.5:c.*162C>T	ENSP00000444293.1:n.*162C>T
NM_001146705.1:c.*162C>T	NP_001140177.1:n.*162C>T
NM_001146706.1:c.*162C>T	NP_001140178.1:n.*162C>T
NM_004653.4:c.*162C>T	NP_004644.2:n.*162C>T
XM_005262560.1:c.*162C>T	XP_005262617.1:n.*162C>T
XM_005262561.1:c.*162C>T	XP_005262618.1:n.*162C>T
XM_011531468.1:c.*162C>T	XP_011529770.1:n.*162C>T
XR_430568.2:n.5557C>T
XM_005262560.3:c.*162C>T	XP_005262617.1:n.*162C>T
XM_005262561.3:c.*162C>T	XP_005262618.1:n.*162C>T
XM_011531468.3:c.*162C>T	XP_011529770.1:n.*162C>T
XM_024452495.1:c.*162C>T	XP_024308263.1:n.*162C>T
XM_024452496.1:c.*162C>T	XP_024308264.1:n.*162C>T
XR_001756009.2:n.5520C>T
XR_001756010.2:n.5488C>T
XR_001756011.2:n.5385C>T
XR_001756012.2:n.5533C>T
XR_001756013.2:n.4851C>T
XR_002958832.1:n.5105C>T
XR_002958834.1:n.5176C>T
XR_002958835.1:n.5059C>T
XR_002958836.1:n.5710C>T
XR_002958837.1:n.5517C>T
XR_244571.4:n.5037C>T
XR_430568.4:n.5556C>T
NM_001146706.2:c.*162C>T	NP_001140178.1:n.*162C>T
NM_004653.5:c.*162C>T MANE Select	NP_004644.2:n.*162C>T
NM_001146705.2:c.*162C>T	NP_001140177.1:n.*162C>T