Canonical Allele Identifier: CA826128521

Gene: COL21A1

Linked Data

• dbSNP Id: rs1161992468
• MyVariant Identifiers: chr6:g.56210839T>C (hg19) ; chr6:g.56346041T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.56346041T>C , CM000668.2:g.56346041T>C	GRCh38
NC_000006.11:g.56210839T>C , CM000668.1:g.56210839T>C	GRCh37
NC_000006.10:g.56318798T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000370819.5:c.-39+47930A>G	ENSP00000359855.1:n.-39+47930A>G
XM_011514924.1:c.-39+47930A>G	XP_011513226.1:n.-39+47930A>G
NM_001318752.1:c.-39+47930A>G	NP_001305681.1:n.-39+47930A>G
XM_011514924.2:c.-39+47930A>G	XP_011513226.1:n.-39+47930A>G
NM_001318752.2:c.-39+47930A>G	NP_001305681.1:n.-39+47930A>G