Canonical Allele Identifier: CA414843750

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869490G>C (hg19) ; chrY:g.19707604G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707604G>C , CM000686.2:g.19707604G>C	GRCh38
NC_000024.9:g.21869490G>C , CM000686.1:g.21869490G>C	GRCh37
NC_000024.8:g.20328878G>C	NCBI36
NG_032920.1:g.42336C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3542C>G MANE Select	ENSP00000322408.4:p.Pro1181Arg
ENST00000317961.8:c.3542C>G	ENSP00000322408.4:p.Pro1181Arg
ENST00000382806.6:c.3371C>G	ENSP00000372256.2:p.Pro1124Arg
ENST00000415360.1:c.458C>G	ENSP00000389433.1:p.Pro153Arg
ENST00000440077.5:c.3419C>G	ENSP00000398543.1:p.Pro1140Arg
ENST00000469599.6:n.2140C>G
ENST00000492117.1:n.3434C>G
ENST00000541639.5:c.3635C>G	ENSP00000444293.1:p.Pro1212Arg
NM_001146705.1:c.3635C>G	NP_001140177.1:p.Pro1212Arg
NM_001146706.1:c.3371C>G	NP_001140178.1:p.Pro1124Arg
NM_004653.4:c.3542C>G	NP_004644.2:p.Pro1181Arg
XM_005262560.1:c.3407C>G	XP_005262617.1:p.Pro1136Arg
XM_005262561.1:c.3311C>G	XP_005262618.1:p.Pro1104Arg
XM_011531468.1:c.3464C>G	XP_011529770.1:p.Pro1155Arg
XR_244571.2:n.3830C>G
XR_430568.2:n.4164C>G
XM_005262560.3:c.3407C>G	XP_005262617.1:p.Pro1136Arg
XM_005262561.3:c.3311C>G	XP_005262618.1:p.Pro1104Arg
XM_011531468.3:c.3464C>G	XP_011529770.1:p.Pro1155Arg
XM_024452495.1:c.1532C>G	XP_024308263.1:p.Pro511Arg
XM_024452496.1:c.1298C>G	XP_024308264.1:p.Pro433Arg
XR_001756009.2:n.4280C>G
XR_001756010.2:n.4280C>G
XR_001756011.2:n.4145C>G
XR_001756012.2:n.4293C>G
XR_001756013.2:n.3611C>G
XR_002958832.1:n.3712C>G
XR_002958834.1:n.3936C>G
XR_002958835.1:n.3819C>G
XR_002958836.1:n.4502C>G
XR_002958837.1:n.4309C>G
XR_244571.4:n.3829C>G
XR_430568.4:n.4163C>G
NM_001146706.2:c.3371C>G	NP_001140178.1:p.Pro1124Arg
NM_004653.5:c.3542C>G MANE Select	NP_004644.2:p.Pro1181Arg
NM_001146705.2:c.3635C>G	NP_001140177.1:p.Pro1212Arg