Canonical Allele Identifier: CA139689642
Gene: COL21A1 HGNC NCBI

Linked Data

dbSNP Id: rs771222301
MyVariant Identifiers: chr6:g.56345967A>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.56345967A>C , CM000668.2:g.56345967A>C GRCh38
NC_000006.11:g.56210765A>C , CM000668.1:g.56210765A>C GRCh37
NC_000006.10:g.56318724A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000370819.5:c.-39+48004T>G ENSP00000359855.1:n.-39+48004T>G
XM_011514924.1:c.-39+48004T>G XP_011513226.1:n.-39+48004T>G
NM_001318752.1:c.-39+48004T>G NP_001305681.1:n.-39+48004T>G
XM_011514924.2:c.-39+48004T>G XP_011513226.1:n.-39+48004T>G
NM_001318752.2:c.-39+48004T>G NP_001305681.1:n.-39+48004T>G