Canonical Allele Identifier: CA67832331

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237338734G>C , CM000664.2:g.237338734G>C	GRCh38
NC_000002.11:g.238247377G>C , CM000664.1:g.238247377G>C	GRCh37
NC_000002.10:g.237912116G>C	NCBI36
NG_008676.1:g.80474C>G , LRG_473:g.80474C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.8567+281C>G MANE Select	NP_004360.2:n.8567+281C>G
ENST00000295550.9:c.8567+281C>G MANE Select	ENSP00000295550.4:n.8567+281C>G
NM_004369.3:c.8567+281C>G , LRG_473t1:c.8567+281C>G	NP_004360.2:n.8567+281C>G
NM_057166.4:c.6746+281C>G	NP_476507.3:n.6746+281C>G
NM_057166.5:c.6746+281C>G	NP_476507.3:n.6746+281C>G
NM_057167.3:c.7949+281C>G	NP_476508.2:n.7949+281C>G
NM_057167.4:c.7949+281C>G	NP_476508.2:n.7949+281C>G
ENST00000295550.8:c.8567+281C>G	ENSP00000295550.4:n.8567+281C>G
ENST00000347401.7:c.6743+281C>G	ENSP00000315609.4:n.6743+281C>G
ENST00000347401.8:c.1212+281C>G
ENST00000353578.8:c.7949+281C>G	ENSP00000315873.4:n.7949+281C>G
ENST00000353578.9:c.7949+281C>G	ENSP00000315873.4:n.7949+281C>G
ENST00000409809.5:c.7949+281C>G	ENSP00000386844.1:n.7949+281C>G
ENST00000472056.5:c.6746+281C>G	ENSP00000418285.1:n.6746+281C>G
ENST00000491769.1:n.5009+281C>G
ENST00000682957.1:c.603C>G
ENST00000684508.1:n.834+281C>G
XM_005246065.1:c.7967+281C>G	XP_005246122.1:n.7967+281C>G
XM_005246066.1:c.7346+281C>G	XP_005246123.1:n.7346+281C>G
XM_006712253.1:c.8066+281C>G	XP_006712316.1:n.8066+281C>G
XM_011510574.1:c.8564+281C>G	XP_011508876.1:n.8564+281C>G
XM_011510575.1:c.6161+281C>G	XP_011508877.1:n.6161+281C>G
XM_017003304.1:c.6161+281C>G	XP_016858793.1:n.6161+281C>G
XM_024452684.1:c.7346+281C>G	XP_024308452.1:n.7346+281C>G