Canonical Allele Identifier: CA362739936
Gene: F13A1 HGNC NCBI

Linked Data

gnomAD v4: 6-6224723-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6224723A>C , CM000668.2:g.6224723A>C GRCh38
NC_000006.11:g.6224956A>C , CM000668.1:g.6224956A>C GRCh37
NC_000006.10:g.6169955A>C NCBI36
NG_008107.1:g.100969T>G , LRG_549:g.100969T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.936T>G MANE Select ENSP00000264870.3:p.Tyr312Ter
ENST00000264870.7:c.936T>G ENSP00000264870.3:p.Tyr312Ter
ENST00000445223.1:c.86T>G
NM_000129.3:c.936T>G , LRG_549t1:c.936T>G NP_000120.2:p.Tyr312Ter
XM_006715010.2:c.936T>G XP_006715073.1:p.Tyr312Ter
XM_011514342.1:c.1098T>G XP_011512644.1:p.Tyr366Ter
NM_000129.4:c.936T>G MANE Select NP_000120.2:p.Tyr312Ter