Canonical Allele Identifier: CA414844187

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869628A>G (hg19) ; chrY:g.19707742A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707742A>G , CM000686.2:g.19707742A>G	GRCh38
NC_000024.9:g.21869628A>G , CM000686.1:g.21869628A>G	GRCh37
NC_000024.8:g.20329016A>G	NCBI36
NG_032920.1:g.42198T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3404T>C MANE Select	ENSP00000322408.4:p.Val1135Ala
ENST00000317961.8:c.3404T>C	ENSP00000322408.4:p.Val1135Ala
ENST00000382806.6:c.3233T>C	ENSP00000372256.2:p.Val1078Ala
ENST00000415360.1:c.320T>C	ENSP00000389433.1:p.Val107Ala
ENST00000440077.5:c.3281T>C	ENSP00000398543.1:p.Val1094Ala
ENST00000469599.6:n.2002T>C
ENST00000492117.1:n.3296T>C
ENST00000541639.5:c.3497T>C	ENSP00000444293.1:p.Val1166Ala
NM_001146705.1:c.3497T>C	NP_001140177.1:p.Val1166Ala
NM_001146706.1:c.3233T>C	NP_001140178.1:p.Val1078Ala
NM_004653.4:c.3404T>C	NP_004644.2:p.Val1135Ala
XM_005262560.1:c.3269T>C	XP_005262617.1:p.Val1090Ala
XM_005262561.1:c.3173T>C	XP_005262618.1:p.Val1058Ala
XM_011531468.1:c.3326T>C	XP_011529770.1:p.Val1109Ala
XR_244571.2:n.3692T>C
XR_430568.2:n.4026T>C
XM_005262560.3:c.3269T>C	XP_005262617.1:p.Val1090Ala
XM_005262561.3:c.3173T>C	XP_005262618.1:p.Val1058Ala
XM_011531468.3:c.3326T>C	XP_011529770.1:p.Val1109Ala
XM_024452495.1:c.1394T>C	XP_024308263.1:p.Val465Ala
XM_024452496.1:c.1160T>C	XP_024308264.1:p.Val387Ala
XR_001756009.2:n.4142T>C
XR_001756010.2:n.4142T>C
XR_001756011.2:n.4007T>C
XR_001756012.2:n.4155T>C
XR_001756013.2:n.3473T>C
XR_002958832.1:n.3574T>C
XR_002958834.1:n.3798T>C
XR_002958835.1:n.3681T>C
XR_002958836.1:n.4364T>C
XR_002958837.1:n.4171T>C
XR_244571.4:n.3691T>C
XR_430568.4:n.4025T>C
NM_001146706.2:c.3233T>C	NP_001140178.1:p.Val1078Ala
NM_004653.5:c.3404T>C MANE Select	NP_004644.2:p.Val1135Ala
NM_001146705.2:c.3497T>C	NP_001140177.1:p.Val1166Ala