Canonical Allele Identifier: CA2677189491
Gene: F13A1 HGNC NCBI

Linked Data

gnomAD v4: 6-6145369-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6145369G>T , CM000668.2:g.6145369G>T GRCh38
NC_000006.11:g.6145602G>T , CM000668.1:g.6145602G>T GRCh37
NC_000006.10:g.6090601G>T NCBI36
NG_008107.1:g.180323C>A , LRG_549:g.180323C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264870.8:c.*250C>A MANE Select ENSP00000264870.3:n.*250C>A
ENST00000264870.7:c.*250C>A ENSP00000264870.3:n.*250C>A
NM_000129.3:c.*250C>A , LRG_549t1:c.*250C>A NP_000120.2:n.*250C>A
XM_006715010.2:c.*250C>A XP_006715073.1:n.*250C>A
XM_011514342.1:c.*250C>A XP_011512644.1:n.*250C>A
NM_000129.4:c.*250C>A MANE Select NP_000120.2:n.*250C>A
Search 100 bp 5'
Search 100 bp 3'