Canonical Allele Identifier: CA1630057793
Gene: COL21A1 HGNC NCBI

Linked Data

dbSNP Id: rs1765590176
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.56346042A>G , CM000668.2:g.56346042A>G GRCh38
NC_000006.11:g.56210840A>G , CM000668.1:g.56210840A>G GRCh37
NC_000006.10:g.56318799A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000370819.5:c.-39+47929T>C ENSP00000359855.1:n.-39+47929T>C
XM_011514924.1:c.-39+47929T>C XP_011513226.1:n.-39+47929T>C
NM_001318752.1:c.-39+47929T>C NP_001305681.1:n.-39+47929T>C
XM_011514924.2:c.-39+47929T>C XP_011513226.1:n.-39+47929T>C
NM_001318752.2:c.-39+47929T>C NP_001305681.1:n.-39+47929T>C
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