Canonical Allele Identifier: CA414842095

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21868744T>G (hg19) ; chrY:g.19706858T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706858T>G , CM000686.2:g.19706858T>G	GRCh38
NC_000024.9:g.21868744T>G , CM000686.1:g.21868744T>G	GRCh37
NC_000024.8:g.20328132T>G	NCBI36
NG_032920.1:g.43082A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4005A>C MANE Select	ENSP00000322408.4:p.Gln1335His
ENST00000317961.8:c.4005A>C	ENSP00000322408.4:p.Gln1335His
ENST00000382806.6:c.3834A>C	ENSP00000372256.2:p.Gln1278His
ENST00000440077.5:c.3882A>C	ENSP00000398543.1:p.Gln1294His
ENST00000469599.6:n.2603A>C
ENST00000492117.1:n.3897A>C
ENST00000541639.5:c.4098A>C	ENSP00000444293.1:p.Gln1366His
NM_001146705.1:c.4098A>C	NP_001140177.1:p.Gln1366His
NM_001146706.1:c.3834A>C	NP_001140178.1:p.Gln1278His
NM_004653.4:c.4005A>C	NP_004644.2:p.Gln1335His
XM_005262560.1:c.3870A>C	XP_005262617.1:p.Gln1290His
XM_005262561.1:c.3774A>C	XP_005262618.1:p.Gln1258His
XM_011531468.1:c.3927A>C	XP_011529770.1:p.Gln1309His
XR_244571.2:n.4293A>C
XR_430568.2:n.4627A>C
XM_005262560.3:c.3870A>C	XP_005262617.1:p.Gln1290His
XM_005262561.3:c.3774A>C	XP_005262618.1:p.Gln1258His
XM_011531468.3:c.3927A>C	XP_011529770.1:p.Gln1309His
XM_024452495.1:c.1995A>C	XP_024308263.1:p.Gln665His
XM_024452496.1:c.1761A>C	XP_024308264.1:p.Gln587His
XR_001756009.2:n.4743A>C
XR_001756010.2:n.4743A>C
XR_001756011.2:n.4608A>C
XR_001756012.2:n.4756A>C
XR_001756013.2:n.4074A>C
XR_002958832.1:n.4175A>C
XR_002958834.1:n.4399A>C
XR_002958835.1:n.4282A>C
XR_002958836.1:n.4965A>C
XR_002958837.1:n.4772A>C
XR_244571.4:n.4292A>C
XR_430568.4:n.4626A>C
NM_001146706.2:c.3834A>C	NP_001140178.1:p.Gln1278His
NM_004653.5:c.4005A>C MANE Select	NP_004644.2:p.Gln1335His
NM_001146705.2:c.4098A>C	NP_001140177.1:p.Gln1366His