Canonical Allele Identifier: CA2677189528
Gene: F13A1 HGNC NCBI

Linked Data

gnomAD v4: 6-6145412-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6145412G>A , CM000668.2:g.6145412G>A GRCh38
NC_000006.11:g.6145645G>A , CM000668.1:g.6145645G>A GRCh37
NC_000006.10:g.6090644G>A NCBI36
NG_008107.1:g.180280C>T , LRG_549:g.180280C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.*207C>T MANE Select ENSP00000264870.3:n.*207C>T
ENST00000264870.7:c.*207C>T ENSP00000264870.3:n.*207C>T
NM_000129.3:c.*207C>T , LRG_549t1:c.*207C>T NP_000120.2:n.*207C>T
XM_006715010.2:c.*207C>T XP_006715073.1:n.*207C>T
XM_011514342.1:c.*207C>T XP_011512644.1:n.*207C>T
NM_000129.4:c.*207C>T MANE Select NP_000120.2:n.*207C>T