Canonical Allele Identifier: CA1085596288

Gene: F13A1

Linked Data

• dbSNP Id: rs1583040942
• gnomAD v3: 6-6145342-G-A
• gnomAD v4: 6-6145342-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.6145342G>A , CM000668.2:g.6145342G>A	GRCh38
NC_000006.11:g.6145575G>A , CM000668.1:g.6145575G>A	GRCh37
NC_000006.10:g.6090574G>A	NCBI36
NG_008107.1:g.180350C>T , LRG_549:g.180350C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264870.8:c.*277C>T MANE Select	ENSP00000264870.3:n.*277C>T
ENST00000264870.7:c.*277C>T	ENSP00000264870.3:n.*277C>T
NM_000129.3:c.*277C>T , LRG_549t1:c.*277C>T	NP_000120.2:n.*277C>T
XM_006715010.2:c.*277C>T	XP_006715073.1:n.*277C>T
XM_011514342.1:c.*277C>T	XP_011512644.1:n.*277C>T
NM_000129.4:c.*277C>T MANE Select	NP_000120.2:n.*277C>T