Canonical Allele Identifier: CA362655828

Gene: F13A1

Linked Data

• MyVariant Identifiers: chr6:g.6145859G>A (hg19) ; chr6:g.6145626G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.6145626G>A , CM000668.2:g.6145626G>A	GRCh38
NC_000006.11:g.6145859G>A , CM000668.1:g.6145859G>A	GRCh37
NC_000006.10:g.6090858G>A	NCBI36
NG_008107.1:g.180066C>T , LRG_549:g.180066C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264870.8:c.2192C>T MANE Select	ENSP00000264870.3:p.Ser731Phe
ENST00000264870.7:c.2192C>T	ENSP00000264870.3:p.Ser731Phe
NM_000129.3:c.2192C>T , LRG_549t1:c.2192C>T	NP_000120.2:p.Ser731Phe
XM_006715010.2:c.2192C>T	XP_006715073.1:p.Ser731Phe
XM_011514342.1:c.2354C>T	XP_011512644.1:p.Ser785Phe
NM_000129.4:c.2192C>T MANE Select	NP_000120.2:p.Ser731Phe