Canonical Allele Identifier: CA2677189646
Gene: F13A1 HGNC NCBI

Linked Data

gnomAD v4: 6-6145494-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6145494G>T , CM000668.2:g.6145494G>T GRCh38
NC_000006.11:g.6145727G>T , CM000668.1:g.6145727G>T GRCh37
NC_000006.10:g.6090726G>T NCBI36
NG_008107.1:g.180198C>A , LRG_549:g.180198C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264870.8:c.*125C>A MANE Select ENSP00000264870.3:n.*125C>A
ENST00000264870.7:c.*125C>A ENSP00000264870.3:n.*125C>A
NM_000129.3:c.*125C>A , LRG_549t1:c.*125C>A NP_000120.2:n.*125C>A
XM_006715010.2:c.*125C>A XP_006715073.1:n.*125C>A
XM_011514342.1:c.*125C>A XP_011512644.1:n.*125C>A
NM_000129.4:c.*125C>A MANE Select NP_000120.2:n.*125C>A