Canonical Allele Identifier: CA448498501
Gene: F13A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.6145897C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6145664C>G , CM000668.2:g.6145664C>G GRCh38
NC_000006.11:g.6145897C>G , CM000668.1:g.6145897C>G GRCh37
NC_000006.10:g.6090896C>G NCBI36
NG_008107.1:g.180028G>C , LRG_549:g.180028G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.2154G>C MANE Select ENSP00000264870.3:p.Val718=
ENST00000264870.7:c.2154G>C ENSP00000264870.3:p.Val718=
NM_000129.3:c.2154G>C , LRG_549t1:c.2154G>C NP_000120.2:p.Val718=
XM_006715010.2:c.2154G>C XP_006715073.1:p.Val718=
XM_011514342.1:c.2316G>C XP_011512644.1:p.Val772=
NM_000129.4:c.2154G>C MANE Select NP_000120.2:p.Val718=