Canonical Allele Identifier: CA2570702613

Gene: COL21A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.56346017A>G , CM000668.2:g.56346017A>G	GRCh38
NC_000006.11:g.56210815A>G , CM000668.1:g.56210815A>G	GRCh37
NC_000006.10:g.56318774A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000370819.5:c.-39+47954T>C	ENSP00000359855.1:n.-39+47954T>C
XM_011514924.1:c.-39+47954T>C	XP_011513226.1:n.-39+47954T>C
NM_001318752.1:c.-39+47954T>C	NP_001305681.1:n.-39+47954T>C
XM_011514924.2:c.-39+47954T>C	XP_011513226.1:n.-39+47954T>C
NM_001318752.2:c.-39+47954T>C	NP_001305681.1:n.-39+47954T>C