Canonical Allele Identifier: CA2677189598
Gene: F13A1 HGNC NCBI

Linked Data

gnomAD v4: 6-6145474-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6145474T>G , CM000668.2:g.6145474T>G GRCh38
NC_000006.11:g.6145707T>G , CM000668.1:g.6145707T>G GRCh37
NC_000006.10:g.6090706T>G NCBI36
NG_008107.1:g.180218A>C , LRG_549:g.180218A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.*145A>C MANE Select ENSP00000264870.3:n.*145A>C
ENST00000264870.7:c.*145A>C ENSP00000264870.3:n.*145A>C
NM_000129.3:c.*145A>C , LRG_549t1:c.*145A>C NP_000120.2:n.*145A>C
XM_006715010.2:c.*145A>C XP_006715073.1:n.*145A>C
XM_011514342.1:c.*145A>C XP_011512644.1:n.*145A>C
NM_000129.4:c.*145A>C MANE Select NP_000120.2:n.*145A>C