Canonical Allele Identifier: CA362740365

Gene: F13A1

Linked Data

• MyVariant Identifiers: chr6:g.6248601T>C (hg19) ; chr6:g.6248368T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.6248368T>C , CM000668.2:g.6248368T>C	GRCh38
NC_000006.11:g.6248601T>C , CM000668.1:g.6248601T>C	GRCh37
NC_000006.10:g.6193600T>C	NCBI36
NG_008107.1:g.77324A>G , LRG_549:g.77324A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264870.8:c.742A>G MANE Select	ENSP00000264870.3:p.Met248Val
ENST00000264870.7:c.742A>G	ENSP00000264870.3:p.Met248Val
NM_000129.3:c.742A>G , LRG_549t1:c.742A>G	NP_000120.2:p.Met248Val
XM_006715010.2:c.742A>G	XP_006715073.1:p.Met248Val
XM_011514342.1:c.904A>G	XP_011512644.1:p.Met302Val
NM_000129.4:c.742A>G MANE Select	NP_000120.2:p.Met248Val