Canonical Allele Identifier: CA133891934
Gene: F13A1 HGNC NCBI

Linked Data

dbSNP Id: rs534616313
gnomAD v3: 6-6145484-C-T
gnomAD v4: 6-6145484-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6145484C>T , CM000668.2:g.6145484C>T GRCh38
NC_000006.11:g.6145717C>T , CM000668.1:g.6145717C>T GRCh37
NC_000006.10:g.6090716C>T NCBI36
NG_008107.1:g.180208G>A , LRG_549:g.180208G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264870.8:c.*135G>A MANE Select ENSP00000264870.3:n.*135G>A
ENST00000264870.7:c.*135G>A ENSP00000264870.3:n.*135G>A
NM_000129.3:c.*135G>A , LRG_549t1:c.*135G>A NP_000120.2:n.*135G>A
XM_006715010.2:c.*135G>A XP_006715073.1:n.*135G>A
XM_011514342.1:c.*135G>A XP_011512644.1:n.*135G>A
NM_000129.4:c.*135G>A MANE Select NP_000120.2:n.*135G>A