Canonical Allele Identifier: CA362737331
Gene: F13A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.6182263C>G (hg19) chr6:g.6182030C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6182030C>G , CM000668.2:g.6182030C>G GRCh38
NC_000006.11:g.6182263C>G , CM000668.1:g.6182263C>G GRCh37
NC_000006.10:g.6127262C>G NCBI36
NG_008107.1:g.143662G>C , LRG_549:g.143662G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264870.8:c.1417G>C MANE Select ENSP00000264870.3:p.Asp473His
ENST00000264870.7:c.1417G>C ENSP00000264870.3:p.Asp473His
NM_000129.3:c.1417G>C , LRG_549t1:c.1417G>C NP_000120.2:p.Asp473His
XM_006715010.2:c.1417G>C XP_006715073.1:p.Asp473His
XM_011514342.1:c.1579G>C XP_011512644.1:p.Asp527His
NM_000129.4:c.1417G>C MANE Select NP_000120.2:p.Asp473His
Search 100 bp 5'
Search 100 bp 3'