Canonical Allele Identifier: CA362740278
Gene: F13A1 HGNC NCBI

Linked Data

dbSNP Id: rs1458820365
gnomAD v2: 6-6248562-G-A
gnomAD v3: 6-6248329-G-A
gnomAD v4: 6-6248329-G-A
MyVariant Identifiers: chr6:g.6248562G>A (hg19) chr6:g.6248329G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6248329G>A , CM000668.2:g.6248329G>A GRCh38
NC_000006.11:g.6248562G>A , CM000668.1:g.6248562G>A GRCh37
NC_000006.10:g.6193561G>A NCBI36
NG_008107.1:g.77363C>T , LRG_549:g.77363C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264870.8:c.781C>T MANE Select ENSP00000264870.3:p.Arg261Cys
ENST00000264870.7:c.781C>T ENSP00000264870.3:p.Arg261Cys
NM_000129.3:c.781C>T , LRG_549t1:c.781C>T NP_000120.2:p.Arg261Cys
XM_006715010.2:c.781C>T XP_006715073.1:p.Arg261Cys
XM_011514342.1:c.943C>T XP_011512644.1:p.Arg315Cys
NM_000129.4:c.781C>T MANE Select NP_000120.2:p.Arg261Cys
Search 100 bp 5'
Search 100 bp 3'