Canonical Allele Identifier: CA353645111
Gene: CPOX HGNC NCBI

Linked Data

gnomAD v4: 3-98585588-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.98585588A>G , CM000665.2:g.98585588A>G GRCh38
NC_000003.11:g.98304432A>G , CM000665.1:g.98304432A>G GRCh37
NC_000003.10:g.99787122A>G NCBI36
NG_015994.1:g.13024T>C
NG_015994.2:g.13024T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647941.2:c.1025T>C MANE Select ENSP00000497326.1:p.Leu342Pro
ENST00000264193.2:c.1025T>C ENSP00000264193.2:p.Leu342Pro
ENST00000510489.1:n.275T>C
NM_000097.5:c.1025T>C NP_000088.3:p.Leu342Pro
XM_005247125.3:c.1025T>C XP_005247182.1:p.Leu342Pro
NM_000097.7:c.1025T>C MANE Select NP_000088.3:p.Leu342Pro
XM_005247125.4:c.1025T>C XP_005247182.1:p.Leu342Pro
XR_001740025.2:n.1196T>C
XR_001740026.1:n.1760T>C
XR_001740027.1:n.1300T>C
XR_001740028.1:n.1266T>C