Canonical Allele Identifier: CA3624356
Gene: F13A1 HGNC NCBI

Linked Data

dbSNP Id: rs375123237
ExAC: 6:6182253 A / C
gnomAD v2: 6-6182253-A-C
gnomAD v4: 6-6182020-A-C
MyVariant Identifiers: chr6:g.6182253A>C (hg19) chr6:g.6182020A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6182020A>C , CM000668.2:g.6182020A>C GRCh38
NC_000006.11:g.6182253A>C , CM000668.1:g.6182253A>C GRCh37
NC_000006.10:g.6127252A>C NCBI36
NG_008107.1:g.143672T>G , LRG_549:g.143672T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.1427T>G MANE Select ENSP00000264870.3:p.Met476Arg
ENST00000264870.7:c.1427T>G ENSP00000264870.3:p.Met476Arg
NM_000129.3:c.1427T>G , LRG_549t1:c.1427T>G NP_000120.2:p.Met476Arg
XM_006715010.2:c.1427T>G XP_006715073.1:p.Met476Arg
XM_011514342.1:c.1589T>G XP_011512644.1:p.Met530Arg
NM_000129.4:c.1427T>G MANE Select NP_000120.2:p.Met476Arg
Search 100 bp 5'
Search 100 bp 3'