Canonical Allele Identifier: CA1630057723
Gene: COL21A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.56345867A= , CM000668.2:g.56345867A= GRCh38
NC_000006.11:g.56210665A= , CM000668.1:g.56210665A= GRCh37
NC_000006.10:g.56318624A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000370819.5:c.-39+48104T= ENSP00000359855.1:n.-39+48104T=
XM_011514924.1:c.-39+48104T= XP_011513226.1:n.-39+48104T=
NM_001318752.1:c.-39+48104T= NP_001305681.1:n.-39+48104T=
XM_011514924.2:c.-39+48104T= XP_011513226.1:n.-39+48104T=
NM_001318752.2:c.-39+48104T= NP_001305681.1:n.-39+48104T=