Canonical Allele Identifier: CA134398169
Gene: F13A1 HGNC NCBI

Linked Data

dbSNP Id: rs1055508087
gnomAD v3: 6-6286068-T-C
gnomAD v4: 6-6286068-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6286068T>C , CM000668.2:g.6286068T>C GRCh38
NC_000006.11:g.6286301T>C , CM000668.1:g.6286301T>C GRCh37
NC_000006.10:g.6231300T>C NCBI36
NG_008107.1:g.39624A>G , LRG_549:g.39624A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000264870.8:c.320-19259A>G MANE Select ENSP00000264870.3:n.320-19259A>G
ENST00000264870.7:c.320-19259A>G ENSP00000264870.3:n.320-19259A>G
ENST00000414279.5:c.320-19259A>G ENSP00000413334.1:n.320-19259A>G
ENST00000431222.6:c.482-19259A>G ENSP00000416295.2:n.482-19259A>G
ENST00000479211.1:n.305-19259A>G
NM_000129.3:c.320-19259A>G , LRG_549t1:c.320-19259A>G NP_000120.2:n.320-19259A>G
XM_006715010.2:c.320-19259A>G XP_006715073.1:n.320-19259A>G
XM_011514342.1:c.482-19259A>G XP_011512644.1:n.482-19259A>G
NM_000129.4:c.320-19259A>G MANE Select NP_000120.2:n.320-19259A>G