Canonical Allele Identifier: CA473367988
Gene: SAA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.18291366T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.18269819T>C , CM000673.2:g.18269819T>C GRCh38
NC_000011.9:g.18291366T>C , CM000673.1:g.18291366T>C GRCh37
NC_000011.8:g.18247942T>C NCBI36
NG_021330.1:g.8559T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000689650.1:c.*482T>C ENSP00000509190.1:n.*482T>C
ENST00000356524.9:c.333T>C MANE Select ENSP00000348918.4:p.Asn111=
ENST00000649195.1:c.*130T>C ENSP00000497498.1:n.*130T>C
ENST00000356524.8:c.333T>C ENSP00000348918.4:p.Asn111=
ENST00000405158.2:c.333T>C ENSP00000384906.2:p.Asn111=
ENST00000532858.5:c.333T>C ENSP00000436866.1:p.Asn111=
NM_000331.4:c.333T>C NP_000322.2:p.Asn111=
NM_001178006.1:c.333T>C NP_001171477.1:p.Asn111=
NM_199161.3:c.333T>C NP_954630.1:p.Asn111=
NM_000331.5:c.333T>C NP_000322.2:p.Asn111=
NM_001178006.2:c.333T>C NP_001171477.1:p.Asn111=
NM_199161.4:c.333T>C NP_954630.1:p.Asn111=
NM_199161.5:c.333T>C MANE Select NP_954630.2:p.Asn111=
NM_000331.6:c.333T>C NP_000322.3:p.Asn111=
NM_001178006.3:c.333T>C NP_001171477.2:p.Asn111=