Canonical Allele Identifier: CA414839832

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21867910G>C (hg19) ; chrY:g.19706024G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706024G>C , CM000686.2:g.19706024G>C	GRCh38
NC_000024.9:g.21867910G>C , CM000686.1:g.21867910G>C	GRCh37
NC_000024.8:g.20327298G>C	NCBI36
NG_032920.1:g.43916C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4591C>G MANE Select	ENSP00000322408.4:p.Leu1531Val
ENST00000317961.8:c.4591C>G	ENSP00000322408.4:p.Leu1531Val
ENST00000382806.6:c.4420C>G	ENSP00000372256.2:p.Leu1474Val
ENST00000469599.6:n.3342C>G
ENST00000492117.1:n.4636C>G
ENST00000541639.5:c.4684C>G	ENSP00000444293.1:p.Leu1562Val
NM_001146705.1:c.4684C>G	NP_001140177.1:p.Leu1562Val
NM_001146706.1:c.4420C>G	NP_001140178.1:p.Leu1474Val
NM_004653.4:c.4591C>G	NP_004644.2:p.Leu1531Val
XM_005262560.1:c.4456C>G	XP_005262617.1:p.Leu1486Val
XM_005262561.1:c.4360C>G	XP_005262618.1:p.Leu1454Val
XM_011531468.1:c.4513C>G	XP_011529770.1:p.Leu1505Val
XR_430568.2:n.5366C>G
XM_005262560.3:c.4456C>G	XP_005262617.1:p.Leu1486Val
XM_005262561.3:c.4360C>G	XP_005262618.1:p.Leu1454Val
XM_011531468.3:c.4513C>G	XP_011529770.1:p.Leu1505Val
XM_024452495.1:c.2581C>G	XP_024308263.1:p.Leu861Val
XM_024452496.1:c.2347C>G	XP_024308264.1:p.Leu783Val
XR_001756009.2:n.5329C>G
XR_001756010.2:n.5297C>G
XR_001756011.2:n.5194C>G
XR_001756012.2:n.5342C>G
XR_001756013.2:n.4660C>G
XR_002958832.1:n.4914C>G
XR_002958834.1:n.4985C>G
XR_002958835.1:n.4868C>G
XR_002958836.1:n.5519C>G
XR_002958837.1:n.5326C>G
XR_244571.4:n.4846C>G
XR_430568.4:n.5365C>G
NM_001146706.2:c.4420C>G	NP_001140178.1:p.Leu1474Val
NM_004653.5:c.4591C>G MANE Select	NP_004644.2:p.Leu1531Val
NM_001146705.2:c.4684C>G	NP_001140177.1:p.Leu1562Val