Canonical Allele Identifier: CA2591318649
Gene: F13A1 HGNC NCBI

Linked Data

dbSNP Id: rs2151066506
gnomAD v3: 6-6145489-C-A
gnomAD v4: 6-6145489-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6145489C>A , CM000668.2:g.6145489C>A GRCh38
NC_000006.11:g.6145722C>A , CM000668.1:g.6145722C>A GRCh37
NC_000006.10:g.6090721C>A NCBI36
NG_008107.1:g.180203G>T , LRG_549:g.180203G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264870.8:c.*130G>T MANE Select ENSP00000264870.3:n.*130G>T
ENST00000264870.7:c.*130G>T ENSP00000264870.3:n.*130G>T
NM_000129.3:c.*130G>T , LRG_549t1:c.*130G>T NP_000120.2:n.*130G>T
XM_006715010.2:c.*130G>T XP_006715073.1:n.*130G>T
XM_011514342.1:c.*130G>T XP_011512644.1:n.*130G>T
NM_000129.4:c.*130G>T MANE Select NP_000120.2:n.*130G>T
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