Canonical Allele Identifier: CA2677189479
Gene: F13A1 HGNC NCBI

Linked Data

gnomAD v4: 6-6145362-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6145362G>T , CM000668.2:g.6145362G>T GRCh38
NC_000006.11:g.6145595G>T , CM000668.1:g.6145595G>T GRCh37
NC_000006.10:g.6090594G>T NCBI36
NG_008107.1:g.180330C>A , LRG_549:g.180330C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264870.8:c.*257C>A MANE Select ENSP00000264870.3:n.*257C>A
ENST00000264870.7:c.*257C>A ENSP00000264870.3:n.*257C>A
NM_000129.3:c.*257C>A , LRG_549t1:c.*257C>A NP_000120.2:n.*257C>A
XM_006715010.2:c.*257C>A XP_006715073.1:n.*257C>A
XM_011514342.1:c.*257C>A XP_011512644.1:n.*257C>A
NM_000129.4:c.*257C>A MANE Select NP_000120.2:n.*257C>A
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