Canonical Allele Identifier: CA362737704
Gene: F13A1 HGNC NCBI

Linked Data

dbSNP Id: rs1451897876
gnomAD v2: 6-6182362-G-A
gnomAD v4: 6-6182129-G-A
MyVariant Identifiers: chr6:g.6182362G>A (hg19) chr6:g.6182129G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6182129G>A , CM000668.2:g.6182129G>A GRCh38
NC_000006.11:g.6182362G>A , CM000668.1:g.6182362G>A GRCh37
NC_000006.10:g.6127361G>A NCBI36
NG_008107.1:g.143563C>T , LRG_549:g.143563C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264870.8:c.1318C>T MANE Select ENSP00000264870.3:p.Leu440Phe
ENST00000264870.7:c.1318C>T ENSP00000264870.3:p.Leu440Phe
NM_000129.3:c.1318C>T , LRG_549t1:c.1318C>T NP_000120.2:p.Leu440Phe
XM_006715010.2:c.1318C>T XP_006715073.1:p.Leu440Phe
XM_011514342.1:c.1480C>T XP_011512644.1:p.Leu494Phe
NM_000129.4:c.1318C>T MANE Select NP_000120.2:p.Leu440Phe
Search 100 bp 5'
Search 100 bp 3'