Canonical Allele Identifier: CA414844374

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869864G>C (hg19) ; chrY:g.19707978G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707978G>C , CM000686.2:g.19707978G>C	GRCh38
NC_000024.9:g.21869864G>C , CM000686.1:g.21869864G>C	GRCh37
NC_000024.8:g.20329252G>C	NCBI36
NG_032920.1:g.41962C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000317961.9:c.3355C>G MANE Select	ENSP00000322408.4:p.Leu1119Val
ENST00000317961.8:c.3355C>G	ENSP00000322408.4:p.Leu1119Val
ENST00000382806.6:c.3184C>G	ENSP00000372256.2:p.Leu1062Val
ENST00000415360.1:c.271C>G	ENSP00000389433.1:p.Leu91Val
ENST00000440077.5:c.3232C>G	ENSP00000398543.1:p.Leu1078Val
ENST00000469599.6:n.1953C>G
ENST00000492117.1:n.3247C>G
ENST00000541639.5:c.3448C>G	ENSP00000444293.1:p.Leu1150Val
NM_001146705.1:c.3448C>G	NP_001140177.1:p.Leu1150Val
NM_001146706.1:c.3184C>G	NP_001140178.1:p.Leu1062Val
NM_004653.4:c.3355C>G	NP_004644.2:p.Leu1119Val
XM_005262560.1:c.3220C>G	XP_005262617.1:p.Leu1074Val
XM_005262561.1:c.3124C>G	XP_005262618.1:p.Leu1042Val
XM_011531468.1:c.3277C>G	XP_011529770.1:p.Leu1093Val
XR_244571.2:n.3643C>G
XR_430568.2:n.3977C>G
XM_005262560.3:c.3220C>G	XP_005262617.1:p.Leu1074Val
XM_005262561.3:c.3124C>G	XP_005262618.1:p.Leu1042Val
XM_011531468.3:c.3277C>G	XP_011529770.1:p.Leu1093Val
XM_024452495.1:c.1345C>G	XP_024308263.1:p.Leu449Val
XM_024452496.1:c.1111C>G	XP_024308264.1:p.Leu371Val
XR_001756009.2:n.4093C>G
XR_001756010.2:n.4093C>G
XR_001756011.2:n.3958C>G
XR_001756012.2:n.4106C>G
XR_001756013.2:n.3424C>G
XR_002958832.1:n.3525C>G
XR_002958834.1:n.3749C>G
XR_002958835.1:n.3632C>G
XR_002958836.1:n.4315C>G
XR_002958837.1:n.4122C>G
XR_244571.4:n.3642C>G
XR_430568.4:n.3976C>G
NM_001146706.2:c.3184C>G	NP_001140178.1:p.Leu1062Val
NM_004653.5:c.3355C>G MANE Select	NP_004644.2:p.Leu1119Val
NM_001146705.2:c.3448C>G	NP_001140177.1:p.Leu1150Val