Canonical Allele Identifier: CA448640475
Gene: F13A1 HGNC NCBI

Linked Data

dbSNP Id: rs1760996341
MyVariant Identifiers: chr6:g.6182237A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6182004A>C , CM000668.2:g.6182004A>C GRCh38
NC_000006.11:g.6182237A>C , CM000668.1:g.6182237A>C GRCh37
NC_000006.10:g.6127236A>C NCBI36
NG_008107.1:g.143688T>G , LRG_549:g.143688T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.1443T>G MANE Select ENSP00000264870.3:p.Thr481=
ENST00000264870.7:c.1443T>G ENSP00000264870.3:p.Thr481=
NM_000129.3:c.1443T>G , LRG_549t1:c.1443T>G NP_000120.2:p.Thr481=
XM_006715010.2:c.1443T>G XP_006715073.1:p.Thr481=
XM_011514342.1:c.1605T>G XP_011512644.1:p.Thr535=
NM_000129.4:c.1443T>G MANE Select NP_000120.2:p.Thr481=