Canonical Allele Identifier: CA3624124
Gene: F13A1 HGNC NCBI

Linked Data

dbSNP Id: rs764006374
ExAC: 6:6145880 A / G
gnomAD v2: 6-6145880-A-G
gnomAD v4: 6-6145647-A-G
MyVariant Identifiers: chr6:g.6145880A>G (hg19) chr6:g.6145647A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6145647A>G , CM000668.2:g.6145647A>G GRCh38
NC_000006.11:g.6145880A>G , CM000668.1:g.6145880A>G GRCh37
NC_000006.10:g.6090879A>G NCBI36
NG_008107.1:g.180045T>C , LRG_549:g.180045T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.2171T>C MANE Select ENSP00000264870.3:p.Val724Ala
ENST00000264870.7:c.2171T>C ENSP00000264870.3:p.Val724Ala
NM_000129.3:c.2171T>C , LRG_549t1:c.2171T>C NP_000120.2:p.Val724Ala
XM_006715010.2:c.2171T>C XP_006715073.1:p.Val724Ala
XM_011514342.1:c.2333T>C XP_011512644.1:p.Val778Ala
NM_000129.4:c.2171T>C MANE Select NP_000120.2:p.Val724Ala
Search 100 bp 5'
Search 100 bp 3'