Canonical Allele Identifier: CA2711592021
Gene: COL21A1 HGNC NCBI

Linked Data

dbSNP Id: rs1765590176
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Genomic Alleles

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

Transcript Alleles

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