Canonical Allele Identifier: CA414843856

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869520G>C (hg19) ; chrY:g.19707634G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707634G>C , CM000686.2:g.19707634G>C	GRCh38
NC_000024.9:g.21869520G>C , CM000686.1:g.21869520G>C	GRCh37
NC_000024.8:g.20328908G>C	NCBI36
NG_032920.1:g.42306C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3512C>G MANE Select	ENSP00000322408.4:p.Pro1171Arg
ENST00000317961.8:c.3512C>G	ENSP00000322408.4:p.Pro1171Arg
ENST00000382806.6:c.3341C>G	ENSP00000372256.2:p.Pro1114Arg
ENST00000415360.1:c.428C>G	ENSP00000389433.1:p.Pro143Arg
ENST00000440077.5:c.3389C>G	ENSP00000398543.1:p.Pro1130Arg
ENST00000469599.6:n.2110C>G
ENST00000492117.1:n.3404C>G
ENST00000541639.5:c.3605C>G	ENSP00000444293.1:p.Pro1202Arg
NM_001146705.1:c.3605C>G	NP_001140177.1:p.Pro1202Arg
NM_001146706.1:c.3341C>G	NP_001140178.1:p.Pro1114Arg
NM_004653.4:c.3512C>G	NP_004644.2:p.Pro1171Arg
XM_005262560.1:c.3377C>G	XP_005262617.1:p.Pro1126Arg
XM_005262561.1:c.3281C>G	XP_005262618.1:p.Pro1094Arg
XM_011531468.1:c.3434C>G	XP_011529770.1:p.Pro1145Arg
XR_244571.2:n.3800C>G
XR_430568.2:n.4134C>G
XM_005262560.3:c.3377C>G	XP_005262617.1:p.Pro1126Arg
XM_005262561.3:c.3281C>G	XP_005262618.1:p.Pro1094Arg
XM_011531468.3:c.3434C>G	XP_011529770.1:p.Pro1145Arg
XM_024452495.1:c.1502C>G	XP_024308263.1:p.Pro501Arg
XM_024452496.1:c.1268C>G	XP_024308264.1:p.Pro423Arg
XR_001756009.2:n.4250C>G
XR_001756010.2:n.4250C>G
XR_001756011.2:n.4115C>G
XR_001756012.2:n.4263C>G
XR_001756013.2:n.3581C>G
XR_002958832.1:n.3682C>G
XR_002958834.1:n.3906C>G
XR_002958835.1:n.3789C>G
XR_002958836.1:n.4472C>G
XR_002958837.1:n.4279C>G
XR_244571.4:n.3799C>G
XR_430568.4:n.4133C>G
NM_001146706.2:c.3341C>G	NP_001140178.1:p.Pro1114Arg
NM_004653.5:c.3512C>G MANE Select	NP_004644.2:p.Pro1171Arg
NM_001146705.2:c.3605C>G	NP_001140177.1:p.Pro1202Arg