Canonical Allele Identifier: CA414844647

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869923C>G (hg19) ; chrY:g.19708037C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19708037C>G , CM000686.2:g.19708037C>G	GRCh38
NC_000024.9:g.21869923C>G , CM000686.1:g.21869923C>G	GRCh37
NC_000024.8:g.20329311C>G	NCBI36
NG_032920.1:g.41903G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3296G>C MANE Select	ENSP00000322408.4:p.Ser1099Thr
ENST00000317961.8:c.3296G>C	ENSP00000322408.4:p.Ser1099Thr
ENST00000382806.6:c.3125G>C	ENSP00000372256.2:p.Ser1042Thr
ENST00000415360.1:c.212G>C	ENSP00000389433.1:p.Ser71Thr
ENST00000440077.5:c.3173G>C	ENSP00000398543.1:p.Ser1058Thr
ENST00000469599.6:n.1894G>C
ENST00000492117.1:n.3188G>C
ENST00000541639.5:c.3389G>C	ENSP00000444293.1:p.Ser1130Thr
NM_001146705.1:c.3389G>C	NP_001140177.1:p.Ser1130Thr
NM_001146706.1:c.3125G>C	NP_001140178.1:p.Ser1042Thr
NM_004653.4:c.3296G>C	NP_004644.2:p.Ser1099Thr
XM_005262560.1:c.3161G>C	XP_005262617.1:p.Ser1054Thr
XM_005262561.1:c.3065G>C	XP_005262618.1:p.Ser1022Thr
XM_011531468.1:c.3218G>C	XP_011529770.1:p.Ser1073Thr
XR_244571.2:n.3584G>C
XR_430568.2:n.3918G>C
XM_005262560.3:c.3161G>C	XP_005262617.1:p.Ser1054Thr
XM_005262561.3:c.3065G>C	XP_005262618.1:p.Ser1022Thr
XM_011531468.3:c.3218G>C	XP_011529770.1:p.Ser1073Thr
XM_024452495.1:c.1286G>C	XP_024308263.1:p.Ser429Thr
XM_024452496.1:c.1052G>C	XP_024308264.1:p.Ser351Thr
XR_001756009.2:n.4034G>C
XR_001756010.2:n.4034G>C
XR_001756011.2:n.3899G>C
XR_001756012.2:n.4047G>C
XR_001756013.2:n.3365G>C
XR_002958832.1:n.3466G>C
XR_002958834.1:n.3690G>C
XR_002958835.1:n.3573G>C
XR_002958836.1:n.4256G>C
XR_002958837.1:n.4063G>C
XR_244571.4:n.3583G>C
XR_430568.4:n.3917G>C
NM_001146706.2:c.3125G>C	NP_001140178.1:p.Ser1042Thr
NM_004653.5:c.3296G>C MANE Select	NP_004644.2:p.Ser1099Thr
NM_001146705.2:c.3389G>C	NP_001140177.1:p.Ser1130Thr