Canonical Allele Identifier: CA2577185880
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189006527A>G , CM000664.2:g.189006527A>G GRCh38
NC_000002.11:g.189871253A>G , CM000664.1:g.189871253A>G GRCh37
NC_000002.10:g.189579498A>G NCBI36
NG_007404.1:g.37155A>G , LRG_3:g.37155A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.3102+75A>G ENSP00000415346.2:n.3102+75A>G
ENST00000304636.9:c.3201+75A>G MANE Select ENSP00000304408.4:n.3201+75A>G
ENST00000304636.7:c.3201+75A>G ENSP00000304408.3:n.3201+75A>G
ENST00000317840.9:c.2528-1527A>G ENSP00000315243.6:n.2528-1527A>G
NM_000090.3:c.3201+75A>G , LRG_3t1:c.3201+75A>G NP_000081.1:n.3201+75A>G
NM_000090.4:c.3201+75A>G MANE Select NP_000081.2:n.3201+75A>G