Canonical Allele Identifier: CA362737202

Gene: F13A1

Linked Data

• MyVariant Identifiers: chr6:g.6182231T>G (hg19) ; chr6:g.6181998T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.6181998T>G , CM000668.2:g.6181998T>G	GRCh38
NC_000006.11:g.6182231T>G , CM000668.1:g.6182231T>G	GRCh37
NC_000006.10:g.6127230T>G	NCBI36
NG_008107.1:g.143694A>C , LRG_549:g.143694A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264870.8:c.1449A>C MANE Select	ENSP00000264870.3:p.Lys483Asn
ENST00000264870.7:c.1449A>C	ENSP00000264870.3:p.Lys483Asn
NM_000129.3:c.1449A>C , LRG_549t1:c.1449A>C	NP_000120.2:p.Lys483Asn
XM_006715010.2:c.1449A>C	XP_006715073.1:p.Lys483Asn
XM_011514342.1:c.1611A>C	XP_011512644.1:p.Lys537Asn
NM_000129.4:c.1449A>C MANE Select	NP_000120.2:p.Lys483Asn