Canonical Allele Identifier: CA2187753

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344359G>A , CM000664.2:g.237344359G>A	GRCh38
NC_000002.11:g.238253002G>A , CM000664.1:g.238253002G>A	GRCh37
NC_000002.10:g.237917741G>A	NCBI36
NG_008676.1:g.74849C>T , LRG_473:g.74849C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.7659C>T MANE Select	NP_004360.2:p.Asn2553=
ENST00000295550.9:c.7659C>T MANE Select	ENSP00000295550.4:p.Asn2553=
NM_004369.3:c.7659C>T , LRG_473t1:c.7659C>T	NP_004360.2:p.Asn2553=
NM_057166.4:c.5838C>T	NP_476507.3:p.Asn1946=
NM_057166.5:c.5838C>T	NP_476507.3:p.Asn1946=
NM_057167.3:c.7041C>T	NP_476508.2:p.Asn2347=
NM_057167.4:c.7041C>T	NP_476508.2:p.Asn2347=
ENST00000295550.8:c.7659C>T	ENSP00000295550.4:p.Asn2553=
ENST00000347401.7:c.5835C>T	ENSP00000315609.4:p.Asn1945=
ENST00000347401.8:c.304C>T
ENST00000353578.8:c.7041C>T	ENSP00000315873.4:p.Asn2347=
ENST00000353578.9:c.7041C>T	ENSP00000315873.4:p.Asn2347=
ENST00000409809.5:c.7041C>T	ENSP00000386844.1:p.Asn2347=
ENST00000472056.5:c.5838C>T	ENSP00000418285.1:p.Asn1946=
ENST00000491769.1:n.1913C>T
XM_005246065.1:c.7059C>T	XP_005246122.1:p.Asn2353=
XM_005246066.1:c.6438C>T	XP_005246123.1:p.Asn2146=
XM_006712253.1:c.7158C>T	XP_006712316.1:p.Asn2386=
XM_011510574.1:c.7656C>T	XP_011508876.1:p.Asn2552=
XM_011510575.1:c.5253C>T	XP_011508877.1:p.Asn1751=
XM_017003304.1:c.5253C>T	XP_016858793.1:p.Asn1751=
XM_024452684.1:c.6438C>T	XP_024308452.1:p.Asn2146=