Canonical Allele Identifier: CA133891744

Gene: F13A1

Linked Data

• dbSNP Id: rs938440195
• gnomAD v2: 6-6145503-A-G
• gnomAD v3: 6-6145270-A-G
• gnomAD v4: 6-6145270-A-G
• MyVariant Identifiers: chr6:g.6145503A>G (hg19) ; chr6:g.6145270A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.6145270A>G , CM000668.2:g.6145270A>G	GRCh38
NC_000006.11:g.6145503A>G , CM000668.1:g.6145503A>G	GRCh37
NC_000006.10:g.6090502A>G	NCBI36
NG_008107.1:g.180422T>C , LRG_549:g.180422T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264870.8:c.*349T>C MANE Select	ENSP00000264870.3:n.*349T>C
ENST00000264870.7:c.*349T>C	ENSP00000264870.3:n.*349T>C
NM_000129.3:c.*349T>C , LRG_549t1:c.*349T>C	NP_000120.2:n.*349T>C
XM_006715010.2:c.*349T>C	XP_006715073.1:n.*349T>C
XM_011514342.1:c.*349T>C	XP_011512644.1:n.*349T>C
NM_000129.4:c.*349T>C MANE Select	NP_000120.2:n.*349T>C