Canonical Allele Identifier: CA414844615

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869917T>G (hg19) ; chrY:g.19708031T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19708031T>G , CM000686.2:g.19708031T>G	GRCh38
NC_000024.9:g.21869917T>G , CM000686.1:g.21869917T>G	GRCh37
NC_000024.8:g.20329305T>G	NCBI36
NG_032920.1:g.41909A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3302A>C MANE Select	ENSP00000322408.4:p.Lys1101Thr
ENST00000317961.8:c.3302A>C	ENSP00000322408.4:p.Lys1101Thr
ENST00000382806.6:c.3131A>C	ENSP00000372256.2:p.Lys1044Thr
ENST00000415360.1:c.218A>C	ENSP00000389433.1:p.Lys73Thr
ENST00000440077.5:c.3179A>C	ENSP00000398543.1:p.Lys1060Thr
ENST00000469599.6:n.1900A>C
ENST00000492117.1:n.3194A>C
ENST00000541639.5:c.3395A>C	ENSP00000444293.1:p.Lys1132Thr
NM_001146705.1:c.3395A>C	NP_001140177.1:p.Lys1132Thr
NM_001146706.1:c.3131A>C	NP_001140178.1:p.Lys1044Thr
NM_004653.4:c.3302A>C	NP_004644.2:p.Lys1101Thr
XM_005262560.1:c.3167A>C	XP_005262617.1:p.Lys1056Thr
XM_005262561.1:c.3071A>C	XP_005262618.1:p.Lys1024Thr
XM_011531468.1:c.3224A>C	XP_011529770.1:p.Lys1075Thr
XR_244571.2:n.3590A>C
XR_430568.2:n.3924A>C
XM_005262560.3:c.3167A>C	XP_005262617.1:p.Lys1056Thr
XM_005262561.3:c.3071A>C	XP_005262618.1:p.Lys1024Thr
XM_011531468.3:c.3224A>C	XP_011529770.1:p.Lys1075Thr
XM_024452495.1:c.1292A>C	XP_024308263.1:p.Lys431Thr
XM_024452496.1:c.1058A>C	XP_024308264.1:p.Lys353Thr
XR_001756009.2:n.4040A>C
XR_001756010.2:n.4040A>C
XR_001756011.2:n.3905A>C
XR_001756012.2:n.4053A>C
XR_001756013.2:n.3371A>C
XR_002958832.1:n.3472A>C
XR_002958834.1:n.3696A>C
XR_002958835.1:n.3579A>C
XR_002958836.1:n.4262A>C
XR_002958837.1:n.4069A>C
XR_244571.4:n.3589A>C
XR_430568.4:n.3923A>C
NM_001146706.2:c.3131A>C	NP_001140178.1:p.Lys1044Thr
NM_004653.5:c.3302A>C MANE Select	NP_004644.2:p.Lys1101Thr
NM_001146705.2:c.3395A>C	NP_001140177.1:p.Lys1132Thr