Canonical Allele Identifier: CA448645808
Gene: F13A1 HGNC NCBI

Linked Data

gnomAD v4: 6-6224720-G-C
MyVariant Identifiers: chr6:g.6224953G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6224720G>C , CM000668.2:g.6224720G>C GRCh38
NC_000006.11:g.6224953G>C , CM000668.1:g.6224953G>C GRCh37
NC_000006.10:g.6169952G>C NCBI36
NG_008107.1:g.100972C>G , LRG_549:g.100972C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.939C>G MANE Select ENSP00000264870.3:p.Gly313=
ENST00000264870.7:c.939C>G ENSP00000264870.3:p.Gly313=
ENST00000445223.1:c.89C>G
NM_000129.3:c.939C>G , LRG_549t1:c.939C>G NP_000120.2:p.Gly313=
XM_006715010.2:c.939C>G XP_006715073.1:p.Gly313=
XM_011514342.1:c.1101C>G XP_011512644.1:p.Gly367=
NM_000129.4:c.939C>G MANE Select NP_000120.2:p.Gly313=