Canonical Allele Identifier: CA2766252915

Gene: KDM5D

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706970A>G , CM000686.2:g.19706970A>G	GRCh38
NC_000024.9:g.21868856A>G , CM000686.1:g.21868856A>G	GRCh37
NC_000024.8:g.20328244A>G	NCBI36
NG_032920.1:g.42970T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4000-107T>C MANE Select	ENSP00000322408.4:n.4000-107T>C
ENST00000317961.8:c.4000-107T>C	ENSP00000322408.4:n.4000-107T>C
ENST00000382806.6:c.3829-107T>C	ENSP00000372256.2:n.3829-107T>C
ENST00000440077.5:c.3877-107T>C	ENSP00000398543.1:n.3877-107T>C
ENST00000469599.6:n.2598-107T>C
ENST00000492117.1:n.3892-107T>C
ENST00000541639.5:c.4093-107T>C	ENSP00000444293.1:n.4093-107T>C
NM_001146705.1:c.4093-107T>C	NP_001140177.1:n.4093-107T>C
NM_001146706.1:c.3829-107T>C	NP_001140178.1:n.3829-107T>C
NM_004653.4:c.4000-107T>C	NP_004644.2:n.4000-107T>C
XM_005262560.1:c.3865-107T>C	XP_005262617.1:n.3865-107T>C
XM_005262561.1:c.3769-107T>C	XP_005262618.1:n.3769-107T>C
XM_011531468.1:c.3922-107T>C	XP_011529770.1:n.3922-107T>C
XR_244571.2:n.4288-107T>C
XR_430568.2:n.4622-107T>C
XM_005262560.3:c.3865-107T>C	XP_005262617.1:n.3865-107T>C
XM_005262561.3:c.3769-107T>C	XP_005262618.1:n.3769-107T>C
XM_011531468.3:c.3922-107T>C	XP_011529770.1:n.3922-107T>C
XM_024452495.1:c.1990-107T>C	XP_024308263.1:n.1990-107T>C
XM_024452496.1:c.1756-107T>C	XP_024308264.1:n.1756-107T>C
XR_001756009.2:n.4738-107T>C
XR_001756010.2:n.4738-107T>C
XR_001756011.2:n.4603-107T>C
XR_001756012.2:n.4751-107T>C
XR_001756013.2:n.4069-107T>C
XR_002958832.1:n.4170-107T>C
XR_002958834.1:n.4394-107T>C
XR_002958835.1:n.4277-107T>C
XR_002958836.1:n.4960-107T>C
XR_002958837.1:n.4767-107T>C
XR_244571.4:n.4287-107T>C
XR_430568.4:n.4621-107T>C
NM_001146706.2:c.3829-107T>C	NP_001140178.1:n.3829-107T>C
NM_004653.5:c.4000-107T>C MANE Select	NP_004644.2:n.4000-107T>C
NM_001146705.2:c.4093-107T>C	NP_001140177.1:n.4093-107T>C