Canonical Allele Identifier: CA923789134

Gene: KDM5D

Linked Data

• gnomAD v3: Y-19707882-T-C
• gnomAD v4: Y-19707882-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707882T>C , CM000686.2:g.19707882T>C	GRCh38
NC_000024.9:g.21869768T>C , CM000686.1:g.21869768T>C	GRCh37
NC_000024.8:g.20329156T>C	NCBI36
NG_032920.1:g.42058A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000317961.9:c.3399+52A>G MANE Select	ENSP00000322408.4:n.3399+52A>G
ENST00000317961.8:c.3399+52A>G	ENSP00000322408.4:n.3399+52A>G
ENST00000382806.6:c.3228+52A>G	ENSP00000372256.2:n.3228+52A>G
ENST00000415360.1:c.315+52A>G	ENSP00000389433.1:n.315+52A>G
ENST00000440077.5:c.3276+52A>G	ENSP00000398543.1:n.3276+52A>G
ENST00000469599.6:n.1997+52A>G
ENST00000492117.1:n.3291+52A>G
ENST00000541639.5:c.3492+52A>G	ENSP00000444293.1:n.3492+52A>G
NM_001146705.1:c.3492+52A>G	NP_001140177.1:n.3492+52A>G
NM_001146706.1:c.3228+52A>G	NP_001140178.1:n.3228+52A>G
NM_004653.4:c.3399+52A>G	NP_004644.2:n.3399+52A>G
XM_005262560.1:c.3264+52A>G	XP_005262617.1:n.3264+52A>G
XM_005262561.1:c.3168+52A>G	XP_005262618.1:n.3168+52A>G
XM_011531468.1:c.3321+52A>G	XP_011529770.1:n.3321+52A>G
XR_244571.2:n.3687+52A>G
XR_430568.2:n.4021+52A>G
XM_005262560.3:c.3264+52A>G	XP_005262617.1:n.3264+52A>G
XM_005262561.3:c.3168+52A>G	XP_005262618.1:n.3168+52A>G
XM_011531468.3:c.3321+52A>G	XP_011529770.1:n.3321+52A>G
XM_024452495.1:c.1389+52A>G	XP_024308263.1:n.1389+52A>G
XM_024452496.1:c.1155+52A>G	XP_024308264.1:n.1155+52A>G
XR_001756009.2:n.4137+52A>G
XR_001756010.2:n.4137+52A>G
XR_001756011.2:n.4002+52A>G
XR_001756012.2:n.4150+52A>G
XR_001756013.2:n.3468+52A>G
XR_002958832.1:n.3569+52A>G
XR_002958834.1:n.3793+52A>G
XR_002958835.1:n.3676+52A>G
XR_002958836.1:n.4359+52A>G
XR_002958837.1:n.4166+52A>G
XR_244571.4:n.3686+52A>G
XR_430568.4:n.4020+52A>G
NM_001146706.2:c.3228+52A>G	NP_001140178.1:n.3228+52A>G
NM_004653.5:c.3399+52A>G MANE Select	NP_004644.2:n.3399+52A>G
NM_001146705.2:c.3492+52A>G	NP_001140177.1:n.3492+52A>G