Canonical Allele Identifier: CA12383282
Gene: F13A1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.6283433G>T
GRCh37 chr6:g.6283666G>T
gnomAD v2:
6:6283666 G / T
gnomAD v3:
6:6283433 G / T
gnomAD v4:
chr6-6283433-G-T
Joint Max Group AF 0.17229293 (AFR)
Genomes Max Group AF 0.17229293 (AFR)
dbSNP:
749005
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6283433G>T , CM000668.2:g.6283433G>T GRCh38
NC_000006.11:g.6283666G>T , CM000668.1:g.6283666G>T GRCh37
NC_000006.10:g.6228665G>T NCBI36
NG_008107.1:g.42259C>A , LRG_549:g.42259C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.320-16624C>A MANE Select ENSP00000264870.3:n.320-16624C>A
ENST00000264870.7:c.320-16624C>A ENSP00000264870.3:n.320-16624C>A
ENST00000414279.5:c.320-16624C>A ENSP00000413334.1:n.320-16624C>A
ENST00000431222.6:c.482-16624C>A ENSP00000416295.2:n.482-16624C>A
ENST00000479211.1:n.305-16624C>A
NM_000129.3:c.320-16624C>A , LRG_549t1:c.320-16624C>A NP_000120.2:n.320-16624C>A
XM_006715010.2:c.320-16624C>A XP_006715073.1:n.320-16624C>A
XM_011514342.1:c.482-16624C>A XP_011512644.1:n.482-16624C>A
NM_000129.4:c.320-16624C>A MANE Select NP_000120.2:n.320-16624C>A
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