Canonical Allele Identifier: CA448645800

Gene: F13A1

Linked Data

• dbSNP Id: rs1583080757
• gnomAD v3: 6-6224702-A-G
• gnomAD v4: 6-6224702-A-G
• MyVariant Identifiers: chr6:g.6224935A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.6224702A>G , CM000668.2:g.6224702A>G	GRCh38
NC_000006.11:g.6224935A>G , CM000668.1:g.6224935A>G	GRCh37
NC_000006.10:g.6169934A>G	NCBI36
NG_008107.1:g.100990T>C , LRG_549:g.100990T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264870.8:c.957T>C MANE Select	ENSP00000264870.3:p.Ala319=
ENST00000264870.7:c.957T>C	ENSP00000264870.3:p.Ala319=
ENST00000445223.1:c.107T>C
NM_000129.3:c.957T>C , LRG_549t1:c.957T>C	NP_000120.2:p.Ala319=
XM_006715010.2:c.957T>C	XP_006715073.1:p.Ala319=
XM_011514342.1:c.1119T>C	XP_011512644.1:p.Ala373=
NM_000129.4:c.957T>C MANE Select	NP_000120.2:p.Ala319=