Canonical Allele Identifier: CA134391466
Gene: F13A1 HGNC NCBI

Linked Data

dbSNP Id: rs1011992471
gnomAD v3: 6-6224714-G-A
gnomAD v4: 6-6224714-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6224714G>A , CM000668.2:g.6224714G>A GRCh38
NC_000006.11:g.6224947G>A , CM000668.1:g.6224947G>A GRCh37
NC_000006.10:g.6169946G>A NCBI36
NG_008107.1:g.100978C>T , LRG_549:g.100978C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.945C>T MANE Select ENSP00000264870.3:p.Cys315=
ENST00000264870.7:c.945C>T ENSP00000264870.3:p.Cys315=
ENST00000445223.1:c.95C>T
NM_000129.3:c.945C>T , LRG_549t1:c.945C>T NP_000120.2:p.Cys315=
XM_006715010.2:c.945C>T XP_006715073.1:p.Cys315=
XM_011514342.1:c.1107C>T XP_011512644.1:p.Cys369=
NM_000129.4:c.945C>T MANE Select NP_000120.2:p.Cys315=