Canonical Allele Identifier: CA414841931

Gene: KDM5D

Linked Data

• dbSNP Id: rs1390845365
• gnomAD v2: Y-21868701-T-C
• MyVariant Identifiers: chrY:g.21868701T>C (hg19) ; chrY:g.19706815T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706815T>C , CM000686.2:g.19706815T>C	GRCh38
NC_000024.9:g.21868701T>C , CM000686.1:g.21868701T>C	GRCh37
NC_000024.8:g.20328089T>C	NCBI36
NG_032920.1:g.43125A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4048A>G MANE Select	ENSP00000322408.4:p.Met1350Val
ENST00000317961.8:c.4048A>G	ENSP00000322408.4:p.Met1350Val
ENST00000382806.6:c.3877A>G	ENSP00000372256.2:p.Met1293Val
ENST00000440077.5:c.3925A>G	ENSP00000398543.1:p.Met1309Val
ENST00000469599.6:n.2646A>G
ENST00000492117.1:n.3940A>G
ENST00000541639.5:c.4141A>G	ENSP00000444293.1:p.Met1381Val
NM_001146705.1:c.4141A>G	NP_001140177.1:p.Met1381Val
NM_001146706.1:c.3877A>G	NP_001140178.1:p.Met1293Val
NM_004653.4:c.4048A>G	NP_004644.2:p.Met1350Val
XM_005262560.1:c.3913A>G	XP_005262617.1:p.Met1305Val
XM_005262561.1:c.3817A>G	XP_005262618.1:p.Met1273Val
XM_011531468.1:c.3970A>G	XP_011529770.1:p.Met1324Val
XR_244571.2:n.4336A>G
XR_430568.2:n.4670A>G
XM_005262560.3:c.3913A>G	XP_005262617.1:p.Met1305Val
XM_005262561.3:c.3817A>G	XP_005262618.1:p.Met1273Val
XM_011531468.3:c.3970A>G	XP_011529770.1:p.Met1324Val
XM_024452495.1:c.2038A>G	XP_024308263.1:p.Met680Val
XM_024452496.1:c.1804A>G	XP_024308264.1:p.Met602Val
XR_001756009.2:n.4786A>G
XR_001756010.2:n.4786A>G
XR_001756011.2:n.4651A>G
XR_001756012.2:n.4799A>G
XR_001756013.2:n.4117A>G
XR_002958832.1:n.4218A>G
XR_002958834.1:n.4442A>G
XR_002958835.1:n.4325A>G
XR_002958836.1:n.5008A>G
XR_002958837.1:n.4815A>G
XR_244571.4:n.4335A>G
XR_430568.4:n.4669A>G
NM_001146706.2:c.3877A>G	NP_001140178.1:p.Met1293Val
NM_004653.5:c.4048A>G MANE Select	NP_004644.2:p.Met1350Val
NM_001146705.2:c.4141A>G	NP_001140177.1:p.Met1381Val