Canonical Allele Identifier: CA2677189591
Gene: F13A1 HGNC NCBI

Linked Data

gnomAD v4: 6-6145468-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6145468G>T , CM000668.2:g.6145468G>T GRCh38
NC_000006.11:g.6145701G>T , CM000668.1:g.6145701G>T GRCh37
NC_000006.10:g.6090700G>T NCBI36
NG_008107.1:g.180224C>A , LRG_549:g.180224C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.*151C>A MANE Select ENSP00000264870.3:n.*151C>A
ENST00000264870.7:c.*151C>A ENSP00000264870.3:n.*151C>A
NM_000129.3:c.*151C>A , LRG_549t1:c.*151C>A NP_000120.2:n.*151C>A
XM_006715010.2:c.*151C>A XP_006715073.1:n.*151C>A
XM_011514342.1:c.*151C>A XP_011512644.1:n.*151C>A
NM_000129.4:c.*151C>A MANE Select NP_000120.2:n.*151C>A