Canonical Allele Identifier: CA414843698

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869475A>G (hg19) ; chrY:g.19707589A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707589A>G , CM000686.2:g.19707589A>G	GRCh38
NC_000024.9:g.21869475A>G , CM000686.1:g.21869475A>G	GRCh37
NC_000024.8:g.20328863A>G	NCBI36
NG_032920.1:g.42351T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3557T>C MANE Select	ENSP00000322408.4:p.Val1186Ala
ENST00000317961.8:c.3557T>C	ENSP00000322408.4:p.Val1186Ala
ENST00000382806.6:c.3386T>C	ENSP00000372256.2:p.Val1129Ala
ENST00000415360.1:c.473T>C	ENSP00000389433.1:p.Val158Ala
ENST00000440077.5:c.3434T>C	ENSP00000398543.1:p.Val1145Ala
ENST00000469599.6:n.2155T>C
ENST00000492117.1:n.3449T>C
ENST00000541639.5:c.3650T>C	ENSP00000444293.1:p.Val1217Ala
NM_001146705.1:c.3650T>C	NP_001140177.1:p.Val1217Ala
NM_001146706.1:c.3386T>C	NP_001140178.1:p.Val1129Ala
NM_004653.4:c.3557T>C	NP_004644.2:p.Val1186Ala
XM_005262560.1:c.3422T>C	XP_005262617.1:p.Val1141Ala
XM_005262561.1:c.3326T>C	XP_005262618.1:p.Val1109Ala
XM_011531468.1:c.3479T>C	XP_011529770.1:p.Val1160Ala
XR_244571.2:n.3845T>C
XR_430568.2:n.4179T>C
XM_005262560.3:c.3422T>C	XP_005262617.1:p.Val1141Ala
XM_005262561.3:c.3326T>C	XP_005262618.1:p.Val1109Ala
XM_011531468.3:c.3479T>C	XP_011529770.1:p.Val1160Ala
XM_024452495.1:c.1547T>C	XP_024308263.1:p.Val516Ala
XM_024452496.1:c.1313T>C	XP_024308264.1:p.Val438Ala
XR_001756009.2:n.4295T>C
XR_001756010.2:n.4295T>C
XR_001756011.2:n.4160T>C
XR_001756012.2:n.4308T>C
XR_001756013.2:n.3626T>C
XR_002958832.1:n.3727T>C
XR_002958834.1:n.3951T>C
XR_002958835.1:n.3834T>C
XR_002958836.1:n.4517T>C
XR_002958837.1:n.4324T>C
XR_244571.4:n.3844T>C
XR_430568.4:n.4178T>C
NM_001146706.2:c.3386T>C	NP_001140178.1:p.Val1129Ala
NM_004653.5:c.3557T>C MANE Select	NP_004644.2:p.Val1186Ala
NM_001146705.2:c.3650T>C	NP_001140177.1:p.Val1217Ala