Canonical Allele Identifier: CA448645851
Gene: F13A1 HGNC NCBI

Linked Data

gnomAD v4: 6-6224786-C-G
MyVariant Identifiers: chr6:g.6225019C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6224786C>G , CM000668.2:g.6224786C>G GRCh38
NC_000006.11:g.6225019C>G , CM000668.1:g.6225019C>G GRCh37
NC_000006.10:g.6170018C>G NCBI36
NG_008107.1:g.100906G>C , LRG_549:g.100906G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264870.8:c.873G>C MANE Select ENSP00000264870.3:p.Ser291=
ENST00000264870.7:c.873G>C ENSP00000264870.3:p.Ser291=
ENST00000445223.1:c.23G>C
NM_000129.3:c.873G>C , LRG_549t1:c.873G>C NP_000120.2:p.Ser291=
XM_006715010.2:c.873G>C XP_006715073.1:p.Ser291=
XM_011514342.1:c.1035G>C XP_011512644.1:p.Ser345=
NM_000129.4:c.873G>C MANE Select NP_000120.2:p.Ser291=