Canonical Allele Identifier: CA448640548
Gene: F13A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.6182357A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6182124A>G , CM000668.2:g.6182124A>G GRCh38
NC_000006.11:g.6182357A>G , CM000668.1:g.6182357A>G GRCh37
NC_000006.10:g.6127356A>G NCBI36
NG_008107.1:g.143568T>C , LRG_549:g.143568T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.1323T>C MANE Select ENSP00000264870.3:p.Ile441=
ENST00000264870.7:c.1323T>C ENSP00000264870.3:p.Ile441=
NM_000129.3:c.1323T>C , LRG_549t1:c.1323T>C NP_000120.2:p.Ile441=
XM_006715010.2:c.1323T>C XP_006715073.1:p.Ile441=
XM_011514342.1:c.1485T>C XP_011512644.1:p.Ile495=
NM_000129.4:c.1323T>C MANE Select NP_000120.2:p.Ile441=