Canonical Allele Identifier: CA2844471572

Gene: KDM5D

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706703C>T , CM000686.2:g.19706703C>T	GRCh38
NC_000024.9:g.21868589C>T , CM000686.1:g.21868589C>T	GRCh37
NC_000024.8:g.20327977C>T	NCBI36
NG_032920.1:g.43237G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4070-63G>A MANE Select	ENSP00000322408.4:n.4070-63G>A
ENST00000317961.8:c.4070-63G>A	ENSP00000322408.4:n.4070-63G>A
ENST00000382806.6:c.3899-63G>A	ENSP00000372256.2:n.3899-63G>A
ENST00000440077.5:c.3947-63G>A	ENSP00000398543.1:n.3947-63G>A
ENST00000469599.6:n.2758G>A
ENST00000492117.1:n.4052G>A
ENST00000541639.5:c.4163-63G>A	ENSP00000444293.1:n.4163-63G>A
NM_001146705.1:c.4163-63G>A	NP_001140177.1:n.4163-63G>A
NM_001146706.1:c.3899-63G>A	NP_001140178.1:n.3899-63G>A
NM_004653.4:c.4070-63G>A	NP_004644.2:n.4070-63G>A
XM_005262560.1:c.3935-63G>A	XP_005262617.1:n.3935-63G>A
XM_005262561.1:c.3839-63G>A	XP_005262618.1:n.3839-63G>A
XM_011531468.1:c.3992-63G>A	XP_011529770.1:n.3992-63G>A
XR_244571.2:n.4357+91G>A
XR_430568.2:n.4782G>A
XM_005262560.3:c.3935-63G>A	XP_005262617.1:n.3935-63G>A
XM_005262561.3:c.3839-63G>A	XP_005262618.1:n.3839-63G>A
XM_011531468.3:c.3992-63G>A	XP_011529770.1:n.3992-63G>A
XM_024452495.1:c.2060-63G>A	XP_024308263.1:n.2060-63G>A
XM_024452496.1:c.1826-63G>A	XP_024308264.1:n.1826-63G>A
XR_001756009.2:n.4808-63G>A
XR_001756010.2:n.4807+91G>A
XR_001756011.2:n.4673-63G>A
XR_001756012.2:n.4821-63G>A
XR_001756013.2:n.4139-63G>A
XR_002958832.1:n.4330G>A
XR_002958834.1:n.4464-63G>A
XR_002958835.1:n.4347-63G>A
XR_002958836.1:n.5029+91G>A
XR_002958837.1:n.4836+91G>A
XR_244571.4:n.4356+91G>A
XR_430568.4:n.4781G>A
NM_001146706.2:c.3899-63G>A	NP_001140178.1:n.3899-63G>A
NM_004653.5:c.4070-63G>A MANE Select	NP_004644.2:n.4070-63G>A
NM_001146705.2:c.4163-63G>A	NP_001140177.1:n.4163-63G>A