Canonical Allele Identifier: CA362655849
Gene: F13A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.6145870T>G (hg19) chr6:g.6145637T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6145637T>G , CM000668.2:g.6145637T>G GRCh38
NC_000006.11:g.6145870T>G , CM000668.1:g.6145870T>G GRCh37
NC_000006.10:g.6090869T>G NCBI36
NG_008107.1:g.180055A>C , LRG_549:g.180055A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.2181A>C MANE Select ENSP00000264870.3:p.Gln727His
ENST00000264870.7:c.2181A>C ENSP00000264870.3:p.Gln727His
NM_000129.3:c.2181A>C , LRG_549t1:c.2181A>C NP_000120.2:p.Gln727His
XM_006715010.2:c.2181A>C XP_006715073.1:p.Gln727His
XM_011514342.1:c.2343A>C XP_011512644.1:p.Gln781His
NM_000129.4:c.2181A>C MANE Select NP_000120.2:p.Gln727His
Search 100 bp 5'
Search 100 bp 3'