Canonical Allele Identifier: CA414843259

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869358C>G (hg19) ; chrY:g.19707472C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707472C>G , CM000686.2:g.19707472C>G	GRCh38
NC_000024.9:g.21869358C>G , CM000686.1:g.21869358C>G	GRCh37
NC_000024.8:g.20328746C>G	NCBI36
NG_032920.1:g.42468G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3674G>C MANE Select	ENSP00000322408.4:p.Trp1225Ser
ENST00000317961.8:c.3674G>C	ENSP00000322408.4:p.Trp1225Ser
ENST00000382806.6:c.3503G>C	ENSP00000372256.2:p.Trp1168Ser
ENST00000415360.1:c.590G>C	ENSP00000389433.1:p.Trp197Ser
ENST00000440077.5:c.3551G>C	ENSP00000398543.1:p.Trp1184Ser
ENST00000469599.6:n.2272G>C
ENST00000492117.1:n.3566G>C
ENST00000541639.5:c.3767G>C	ENSP00000444293.1:p.Trp1256Ser
NM_001146705.1:c.3767G>C	NP_001140177.1:p.Trp1256Ser
NM_001146706.1:c.3503G>C	NP_001140178.1:p.Trp1168Ser
NM_004653.4:c.3674G>C	NP_004644.2:p.Trp1225Ser
XM_005262560.1:c.3539G>C	XP_005262617.1:p.Trp1180Ser
XM_005262561.1:c.3443G>C	XP_005262618.1:p.Trp1148Ser
XM_011531468.1:c.3596G>C	XP_011529770.1:p.Trp1199Ser
XR_244571.2:n.3962G>C
XR_430568.2:n.4296G>C
XM_005262560.3:c.3539G>C	XP_005262617.1:p.Trp1180Ser
XM_005262561.3:c.3443G>C	XP_005262618.1:p.Trp1148Ser
XM_011531468.3:c.3596G>C	XP_011529770.1:p.Trp1199Ser
XM_024452495.1:c.1664G>C	XP_024308263.1:p.Trp555Ser
XM_024452496.1:c.1430G>C	XP_024308264.1:p.Trp477Ser
XR_001756009.2:n.4412G>C
XR_001756010.2:n.4412G>C
XR_001756011.2:n.4277G>C
XR_001756012.2:n.4425G>C
XR_001756013.2:n.3743G>C
XR_002958832.1:n.3844G>C
XR_002958834.1:n.4068G>C
XR_002958835.1:n.3951G>C
XR_002958836.1:n.4634G>C
XR_002958837.1:n.4441G>C
XR_244571.4:n.3961G>C
XR_430568.4:n.4295G>C
NM_001146706.2:c.3503G>C	NP_001140178.1:p.Trp1168Ser
NM_004653.5:c.3674G>C MANE Select	NP_004644.2:p.Trp1225Ser
NM_001146705.2:c.3767G>C	NP_001140177.1:p.Trp1256Ser