Canonical Allele Identifier: CA2677189111
Gene: F13A1 HGNC NCBI

Linked Data

gnomAD v4: 6-6145118-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6145118T>A , CM000668.2:g.6145118T>A GRCh38
NC_000006.11:g.6145351T>A , CM000668.1:g.6145351T>A GRCh37
NC_000006.10:g.6090350T>A NCBI36
NG_008107.1:g.180574A>T , LRG_549:g.180574A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.*501A>T MANE Select ENSP00000264870.3:n.*501A>T
ENST00000264870.7:c.*501A>T ENSP00000264870.3:n.*501A>T
NM_000129.3:c.*501A>T , LRG_549t1:c.*501A>T NP_000120.2:n.*501A>T
XM_006715010.2:c.*501A>T XP_006715073.1:n.*501A>T
XM_011514342.1:c.*501A>T XP_011512644.1:n.*501A>T
NM_000129.4:c.*501A>T MANE Select NP_000120.2:n.*501A>T