Canonical Allele Identifier: CA351188048

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238275632G>T (hg19) ; chr2:g.237366989G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237366989G>T , CM000664.2:g.237366989G>T	GRCh38
NC_000002.11:g.238275632G>T , CM000664.1:g.238275632G>T	GRCh37
NC_000002.10:g.237940371G>T	NCBI36
NG_008676.1:g.52219C>A , LRG_473:g.52219C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.4580C>A	ENSP00000315873.4:p.Pro1527His
ENST00000295550.9:c.5198C>A MANE Select	ENSP00000295550.4:p.Pro1733His
ENST00000295550.8:c.5198C>A	ENSP00000295550.4:p.Pro1733His
ENST00000347401.7:c.3377C>A	ENSP00000315609.4:p.Pro1126His
ENST00000353578.8:c.4580C>A	ENSP00000315873.4:p.Pro1527His
ENST00000409809.5:c.4580C>A	ENSP00000386844.1:p.Pro1527His
ENST00000472056.5:c.3377C>A	ENSP00000418285.1:p.Pro1126His
NM_004369.3:c.5198C>A , LRG_473t1:c.5198C>A	NP_004360.2:p.Pro1733His
NM_057166.4:c.3377C>A	NP_476507.3:p.Pro1126His
NM_057167.3:c.4580C>A	NP_476508.2:p.Pro1527His
XM_005246065.1:c.4598C>A	XP_005246122.1:p.Pro1533His
XM_005246066.1:c.3977C>A	XP_005246123.1:p.Pro1326His
XM_006712253.1:c.4697C>A	XP_006712316.1:p.Pro1566His
XM_011510574.1:c.5195C>A	XP_011508876.1:p.Pro1732His
XM_011510575.1:c.2792C>A	XP_011508877.1:p.Pro931His
XM_017003304.1:c.2792C>A	XP_016858793.1:p.Pro931His
XM_024452684.1:c.3977C>A	XP_024308452.1:p.Pro1326His
NM_004369.4:c.5198C>A MANE Select	NP_004360.2:p.Pro1733His
NM_057166.5:c.3377C>A	NP_476507.3:p.Pro1126His
NM_057167.4:c.4580C>A	NP_476508.2:p.Pro1527His