Canonical Allele Identifier: CA3624223
Gene: F13A1 HGNC NCBI

Linked Data

dbSNP Id: rs746626360
ExAC: 6:6167749 C / A
gnomAD v2: 6-6167749-C-A
gnomAD v3: 6-6167516-C-A
gnomAD v4: 6-6167516-C-A
MyVariant Identifiers: chr6:g.6167749C>A (hg19) chr6:g.6167516C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6167516C>A , CM000668.2:g.6167516C>A GRCh38
NC_000006.11:g.6167749C>A , CM000668.1:g.6167749C>A GRCh37
NC_000006.10:g.6112748C>A NCBI36
NG_008107.1:g.158176G>T , LRG_549:g.158176G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264870.8:c.1850G>T MANE Select ENSP00000264870.3:p.Arg617Met
ENST00000264870.7:c.1850G>T ENSP00000264870.3:p.Arg617Met
NM_000129.3:c.1850G>T , LRG_549t1:c.1850G>T NP_000120.2:p.Arg617Met
XM_006715010.2:c.1850G>T XP_006715073.1:p.Arg617Met
XM_011514342.1:c.2012G>T XP_011512644.1:p.Arg671Met
NM_000129.4:c.1850G>T MANE Select NP_000120.2:p.Arg617Met
Search 100 bp 5'
Search 100 bp 3'