Canonical Allele Identifier: CA414844644

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869922G>C (hg19) ; chrY:g.19708036G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19708036G>C , CM000686.2:g.19708036G>C	GRCh38
NC_000024.9:g.21869922G>C , CM000686.1:g.21869922G>C	GRCh37
NC_000024.8:g.20329310G>C	NCBI36
NG_032920.1:g.41904C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3297C>G MANE Select	ENSP00000322408.4:p.Ser1099Arg
ENST00000317961.8:c.3297C>G	ENSP00000322408.4:p.Ser1099Arg
ENST00000382806.6:c.3126C>G	ENSP00000372256.2:p.Ser1042Arg
ENST00000415360.1:c.213C>G	ENSP00000389433.1:p.Ser71Arg
ENST00000440077.5:c.3174C>G	ENSP00000398543.1:p.Ser1058Arg
ENST00000469599.6:n.1895C>G
ENST00000492117.1:n.3189C>G
ENST00000541639.5:c.3390C>G	ENSP00000444293.1:p.Ser1130Arg
NM_001146705.1:c.3390C>G	NP_001140177.1:p.Ser1130Arg
NM_001146706.1:c.3126C>G	NP_001140178.1:p.Ser1042Arg
NM_004653.4:c.3297C>G	NP_004644.2:p.Ser1099Arg
XM_005262560.1:c.3162C>G	XP_005262617.1:p.Ser1054Arg
XM_005262561.1:c.3066C>G	XP_005262618.1:p.Ser1022Arg
XM_011531468.1:c.3219C>G	XP_011529770.1:p.Ser1073Arg
XR_244571.2:n.3585C>G
XR_430568.2:n.3919C>G
XM_005262560.3:c.3162C>G	XP_005262617.1:p.Ser1054Arg
XM_005262561.3:c.3066C>G	XP_005262618.1:p.Ser1022Arg
XM_011531468.3:c.3219C>G	XP_011529770.1:p.Ser1073Arg
XM_024452495.1:c.1287C>G	XP_024308263.1:p.Ser429Arg
XM_024452496.1:c.1053C>G	XP_024308264.1:p.Ser351Arg
XR_001756009.2:n.4035C>G
XR_001756010.2:n.4035C>G
XR_001756011.2:n.3900C>G
XR_001756012.2:n.4048C>G
XR_001756013.2:n.3366C>G
XR_002958832.1:n.3467C>G
XR_002958834.1:n.3691C>G
XR_002958835.1:n.3574C>G
XR_002958836.1:n.4257C>G
XR_002958837.1:n.4064C>G
XR_244571.4:n.3584C>G
XR_430568.4:n.3918C>G
NM_001146706.2:c.3126C>G	NP_001140178.1:p.Ser1042Arg
NM_004653.5:c.3297C>G MANE Select	NP_004644.2:p.Ser1099Arg
NM_001146705.2:c.3390C>G	NP_001140177.1:p.Ser1130Arg