Canonical Allele Identifier: CA2677190753
Gene: F13A1 HGNC NCBI

Linked Data

gnomAD v4: 6-6181921-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6181921G>C , CM000668.2:g.6181921G>C GRCh38
NC_000006.11:g.6182154G>C , CM000668.1:g.6182154G>C GRCh37
NC_000006.10:g.6127153G>C NCBI36
NG_008107.1:g.143771C>G , LRG_549:g.143771C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.1459+67C>G MANE Select ENSP00000264870.3:n.1459+67C>G
ENST00000264870.7:c.1459+67C>G ENSP00000264870.3:n.1459+67C>G
NM_000129.3:c.1459+67C>G , LRG_549t1:c.1459+67C>G NP_000120.2:n.1459+67C>G
XM_006715010.2:c.1459+67C>G XP_006715073.1:n.1459+67C>G
XM_011514342.1:c.1621+67C>G XP_011512644.1:n.1621+67C>G
NM_000129.4:c.1459+67C>G MANE Select NP_000120.2:n.1459+67C>G