Canonical Allele Identifier: CA153482759
Gene: COL28A1 HGNC NCBI

Linked Data

dbSNP Id: rs759732257

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.7359691T>C , CM000669.2:g.7359691T>C GRCh38
NC_000007.13:g.7399322T>C , CM000669.1:g.7399322T>C GRCh37
NC_000007.12:g.7365847T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000399429.8:c.3205+699A>G MANE Select ENSP00000382356.3:n.3205+699A>G
ENST00000399429.7:c.3205+699A>G ENSP00000382356.3:n.3205+699A>G
ENST00000430711.5:c.256+699A>G ENSP00000413093.1:n.256+699A>G
ENST00000453441.1:c.70+699A>G ENSP00000391380.1:n.70+699A>G
NM_001037763.2:c.3205+699A>G NP_001032852.2:n.3205+699A>G
XM_011515358.1:c.3205+699A>G XP_011513660.1:n.3205+699A>G
XM_011515359.1:c.3205+699A>G XP_011513661.1:n.3205+699A>G
XM_011515360.1:c.3205+699A>G XP_011513662.1:n.3205+699A>G
XM_011515362.1:c.2056+699A>G XP_011513664.1:n.2056+699A>G
XR_926936.1:n.3408+699A>G
XM_011515358.3:c.3205+699A>G XP_011513660.1:n.3205+699A>G
XM_011515359.2:c.3205+699A>G XP_011513661.1:n.3205+699A>G
XM_011515360.2:c.3205+699A>G XP_011513662.1:n.3205+699A>G
XM_011515362.2:c.2056+699A>G XP_011513664.1:n.2056+699A>G
XM_017012131.2:c.3205+699A>G XP_016867620.1:n.3205+699A>G
XM_017012132.2:c.3205+699A>G XP_016867621.1:n.3205+699A>G
XR_001744688.1:n.4831+699A>G
XR_926936.3:n.4607+699A>G
NM_001037763.3:c.3205+699A>G MANE Select NP_001032852.2:n.3205+699A>G