Canonical Allele Identifier: CA448645806
Gene: F13A1 HGNC NCBI

Linked Data

gnomAD v4: 6-6224717-T-C
MyVariant Identifiers: chr6:g.6224950T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6224717T>C , CM000668.2:g.6224717T>C GRCh38
NC_000006.11:g.6224950T>C , CM000668.1:g.6224950T>C GRCh37
NC_000006.10:g.6169949T>C NCBI36
NG_008107.1:g.100975A>G , LRG_549:g.100975A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000264870.8:c.942A>G MANE Select ENSP00000264870.3:p.Gln314=
ENST00000264870.7:c.942A>G ENSP00000264870.3:p.Gln314=
ENST00000445223.1:c.92A>G
NM_000129.3:c.942A>G , LRG_549t1:c.942A>G NP_000120.2:p.Gln314=
XM_006715010.2:c.942A>G XP_006715073.1:p.Gln314=
XM_011514342.1:c.1104A>G XP_011512644.1:p.Gln368=
NM_000129.4:c.942A>G MANE Select NP_000120.2:p.Gln314=
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