Canonical Allele Identifier: CA414844788

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869956A>C (hg19) ; chrY:g.19708070A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19708070A>C , CM000686.2:g.19708070A>C	GRCh38
NC_000024.9:g.21869956A>C , CM000686.1:g.21869956A>C	GRCh37
NC_000024.8:g.20329344A>C	NCBI36
NG_032920.1:g.41870T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3263T>G MANE Select	ENSP00000322408.4:p.Val1088Gly
ENST00000317961.8:c.3263T>G	ENSP00000322408.4:p.Val1088Gly
ENST00000382806.6:c.3092T>G	ENSP00000372256.2:p.Val1031Gly
ENST00000415360.1:c.179T>G	ENSP00000389433.1:p.Val60Gly
ENST00000440077.5:c.3140T>G	ENSP00000398543.1:p.Val1047Gly
ENST00000469599.6:n.1861T>G
ENST00000492117.1:n.3155T>G
ENST00000541639.5:c.3356T>G	ENSP00000444293.1:p.Val1119Gly
NM_001146705.1:c.3356T>G	NP_001140177.1:p.Val1119Gly
NM_001146706.1:c.3092T>G	NP_001140178.1:p.Val1031Gly
NM_004653.4:c.3263T>G	NP_004644.2:p.Val1088Gly
XM_005262560.1:c.3128T>G	XP_005262617.1:p.Val1043Gly
XM_005262561.1:c.3032T>G	XP_005262618.1:p.Val1011Gly
XM_011531468.1:c.3185T>G	XP_011529770.1:p.Val1062Gly
XR_244571.2:n.3551T>G
XR_430568.2:n.3885T>G
XM_005262560.3:c.3128T>G	XP_005262617.1:p.Val1043Gly
XM_005262561.3:c.3032T>G	XP_005262618.1:p.Val1011Gly
XM_011531468.3:c.3185T>G	XP_011529770.1:p.Val1062Gly
XM_024452495.1:c.1253T>G	XP_024308263.1:p.Val418Gly
XM_024452496.1:c.1019T>G	XP_024308264.1:p.Val340Gly
XR_001756009.2:n.4001T>G
XR_001756010.2:n.4001T>G
XR_001756011.2:n.3866T>G
XR_001756012.2:n.4014T>G
XR_001756013.2:n.3332T>G
XR_002958832.1:n.3433T>G
XR_002958834.1:n.3657T>G
XR_002958835.1:n.3540T>G
XR_002958836.1:n.4223T>G
XR_002958837.1:n.4030T>G
XR_244571.4:n.3550T>G
XR_430568.4:n.3884T>G
NM_001146706.2:c.3092T>G	NP_001140178.1:p.Val1031Gly
NM_004653.5:c.3263T>G MANE Select	NP_004644.2:p.Val1088Gly
NM_001146705.2:c.3356T>G	NP_001140177.1:p.Val1119Gly