Canonical Allele Identifier: CA414843747

Gene: KDM5D

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3542C>T MANE Select	ENSP00000322408.4:p.Pro1181Leu
ENST00000317961.8:c.3542C>T	ENSP00000322408.4:p.Pro1181Leu
ENST00000382806.6:c.3371C>T	ENSP00000372256.2:p.Pro1124Leu
ENST00000415360.1:c.458C>T	ENSP00000389433.1:p.Pro153Leu
ENST00000440077.5:c.3419C>T	ENSP00000398543.1:p.Pro1140Leu
ENST00000469599.6:n.2140C>T
ENST00000492117.1:n.3434C>T
ENST00000541639.5:c.3635C>T	ENSP00000444293.1:p.Pro1212Leu
NM_001146705.1:c.3635C>T	NP_001140177.1:p.Pro1212Leu
NM_001146706.1:c.3371C>T	NP_001140178.1:p.Pro1124Leu
NM_004653.4:c.3542C>T	NP_004644.2:p.Pro1181Leu
XM_005262560.1:c.3407C>T	XP_005262617.1:p.Pro1136Leu
XM_005262561.1:c.3311C>T	XP_005262618.1:p.Pro1104Leu
XM_011531468.1:c.3464C>T	XP_011529770.1:p.Pro1155Leu
XR_244571.2:n.3830C>T
XR_430568.2:n.4164C>T
XM_005262560.3:c.3407C>T	XP_005262617.1:p.Pro1136Leu
XM_005262561.3:c.3311C>T	XP_005262618.1:p.Pro1104Leu
XM_011531468.3:c.3464C>T	XP_011529770.1:p.Pro1155Leu
XM_024452495.1:c.1532C>T	XP_024308263.1:p.Pro511Leu
XM_024452496.1:c.1298C>T	XP_024308264.1:p.Pro433Leu
XR_001756009.2:n.4280C>T
XR_001756010.2:n.4280C>T
XR_001756011.2:n.4145C>T
XR_001756012.2:n.4293C>T
XR_001756013.2:n.3611C>T
XR_002958832.1:n.3712C>T
XR_002958834.1:n.3936C>T
XR_002958835.1:n.3819C>T
XR_002958836.1:n.4502C>T
XR_002958837.1:n.4309C>T
XR_244571.4:n.3829C>T
XR_430568.4:n.4163C>T
NM_001146706.2:c.3371C>T	NP_001140178.1:p.Pro1124Leu
NM_004653.5:c.3542C>T MANE Select	NP_004644.2:p.Pro1181Leu
NM_001146705.2:c.3635C>T	NP_001140177.1:p.Pro1212Leu