Canonical Allele Identifier: CA1315404111
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189006410T= , CM000664.2:g.189006410T= GRCh38
NC_000002.11:g.189871136T= , CM000664.1:g.189871136T= GRCh37
NC_000002.10:g.189579381T= NCBI36
NG_007404.1:g.37038T= , LRG_3:g.37038T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.3060T= ENSP00000415346.2:p.Gly1020=
ENST00000304636.9:c.3159T= MANE Select ENSP00000304408.4:p.Gly1053=
ENST00000304636.7:c.3159T= ENSP00000304408.3:p.Gly1053=
ENST00000317840.9:c.2528-1644T= ENSP00000315243.6:n.2528-1644T=
NM_000090.3:c.3159T= , LRG_3t1:c.3159T= NP_000081.1:p.Gly1053=
NM_000090.4:c.3159T= MANE Select NP_000081.2:p.Gly1053=