Canonical Allele Identifier: CA448640474
Gene: F13A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.6182231T>C (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.1449A>G MANE Select ENSP00000264870.3:p.Lys483=
ENST00000264870.7:c.1449A>G ENSP00000264870.3:p.Lys483=
NM_000129.3:c.1449A>G , LRG_549t1:c.1449A>G NP_000120.2:p.Lys483=
XM_006715010.2:c.1449A>G XP_006715073.1:p.Lys483=
XM_011514342.1:c.1611A>G XP_011512644.1:p.Lys537=
NM_000129.4:c.1449A>G MANE Select NP_000120.2:p.Lys483=