Canonical Allele Identifier: CA2677189606
Gene: F13A1 HGNC NCBI

Linked Data

gnomAD v4: 6-6145477-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6145477G>A , CM000668.2:g.6145477G>A GRCh38
NC_000006.11:g.6145710G>A , CM000668.1:g.6145710G>A GRCh37
NC_000006.10:g.6090709G>A NCBI36
NG_008107.1:g.180215C>T , LRG_549:g.180215C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264870.8:c.*142C>T MANE Select ENSP00000264870.3:n.*142C>T
ENST00000264870.7:c.*142C>T ENSP00000264870.3:n.*142C>T
NM_000129.3:c.*142C>T , LRG_549t1:c.*142C>T NP_000120.2:n.*142C>T
XM_006715010.2:c.*142C>T XP_006715073.1:n.*142C>T
XM_011514342.1:c.*142C>T XP_011512644.1:n.*142C>T
NM_000129.4:c.*142C>T MANE Select NP_000120.2:n.*142C>T
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