Canonical Allele Identifier: CA1630057772
Gene: COL21A1 HGNC NCBI

Linked Data

dbSNP Id: rs1765589321

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.56345982A>G , CM000668.2:g.56345982A>G GRCh38
NC_000006.11:g.56210780A>G , CM000668.1:g.56210780A>G GRCh37
NC_000006.10:g.56318739A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000370819.5:c.-39+47989T>C ENSP00000359855.1:n.-39+47989T>C
XM_011514924.1:c.-39+47989T>C XP_011513226.1:n.-39+47989T>C
NM_001318752.1:c.-39+47989T>C NP_001305681.1:n.-39+47989T>C
XM_011514924.2:c.-39+47989T>C XP_011513226.1:n.-39+47989T>C
NM_001318752.2:c.-39+47989T>C NP_001305681.1:n.-39+47989T>C