Canonical Allele Identifier: CA9091461
Gene: CREB3L3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4168407G>A , CM000681.2:g.4168407G>A GRCh38
NC_000019.9:g.4168404G>A , CM000681.1:g.4168404G>A GRCh37
NC_000019.8:g.4119404G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000078445.7:c.771G>A MANE Select ENSP00000078445.1:p.Ala257=
ENST00000078445.6:c.771G>A ENSP00000078445.1:p.Ala257=
ENST00000595923.5:c.768G>A ENSP00000469355.1:p.Ala256=
ENST00000598894.1:n.255G>A
ENST00000602147.1:c.715-1733G>A ENSP00000470119.1:n.715-1733G>A
ENST00000602257.5:c.765G>A ENSP00000472399.1:p.Ala255=
NM_001271995.1:c.768G>A NP_001258924.1:p.Ala256=
NM_001271996.1:c.765G>A NP_001258925.1:p.Ala255=
NM_001271997.1:c.715-1733G>A NP_001258926.1:n.715-1733G>A
NM_032607.2:c.771G>A NP_115996.1:p.Ala257=
NM_032607.3:c.771G>A MANE Select NP_115996.1:p.Ala257=
NM_001271995.2:c.768G>A NP_001258924.1:p.Ala256=
NM_001271996.2:c.765G>A NP_001258925.1:p.Ala255=
NM_001271997.2:c.715-1733G>A NP_001258926.1:n.715-1733G>A