Canonical Allele Identifier: CA2188471

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237361827T>C , CM000664.2:g.237361827T>C	GRCh38
NC_000002.11:g.238270470T>C , CM000664.1:g.238270470T>C	GRCh37
NC_000002.10:g.237935209T>C	NCBI36
NG_008676.1:g.57381A>G , LRG_473:g.57381A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.6068A>G MANE Select	NP_004360.2:p.Asn2023Ser
ENST00000295550.9:c.6068A>G MANE Select	ENSP00000295550.4:p.Asn2023Ser
NM_004369.3:c.6068A>G , LRG_473t1:c.6068A>G	NP_004360.2:p.Asn2023Ser
NM_057166.4:c.4247A>G	NP_476507.3:p.Asn1416Ser
NM_057166.5:c.4247A>G	NP_476507.3:p.Asn1416Ser
NM_057167.3:c.5450A>G	NP_476508.2:p.Asn1817Ser
NM_057167.4:c.5450A>G	NP_476508.2:p.Asn1817Ser
ENST00000295550.8:c.6068A>G	ENSP00000295550.4:p.Asn2023Ser
ENST00000347401.7:c.4247A>G	ENSP00000315609.4:p.Asn1416Ser
ENST00000353578.8:c.5450A>G	ENSP00000315873.4:p.Asn1817Ser
ENST00000353578.9:c.5450A>G	ENSP00000315873.4:p.Asn1817Ser
ENST00000409809.5:c.5450A>G	ENSP00000386844.1:p.Asn1817Ser
ENST00000472056.5:c.4247A>G	ENSP00000418285.1:p.Asn1416Ser
XM_005246065.1:c.5468A>G	XP_005246122.1:p.Asn1823Ser
XM_005246066.1:c.4847A>G	XP_005246123.1:p.Asn1616Ser
XM_006712253.1:c.5567A>G	XP_006712316.1:p.Asn1856Ser
XM_011510574.1:c.6065A>G	XP_011508876.1:p.Asn2022Ser
XM_011510575.1:c.3662A>G	XP_011508877.1:p.Asn1221Ser
XM_017003304.1:c.3662A>G	XP_016858793.1:p.Asn1221Ser
XM_024452684.1:c.4847A>G	XP_024308452.1:p.Asn1616Ser