Canonical Allele Identifier: CA3624353
Gene: F13A1 HGNC NCBI

Linked Data

dbSNP Id: rs573332453
ExAC: 6:6182208 G / A
gnomAD v2: 6-6182208-G-A
gnomAD v3: 6-6181975-G-A
gnomAD v4: 6-6181975-G-A
MyVariant Identifiers: chr6:g.6182208G>A (hg19) chr6:g.6181975G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6181975G>A , CM000668.2:g.6181975G>A GRCh38
NC_000006.11:g.6182208G>A , CM000668.1:g.6182208G>A GRCh37
NC_000006.10:g.6127207G>A NCBI36
NG_008107.1:g.143717C>T , LRG_549:g.143717C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.1459+13C>T MANE Select ENSP00000264870.3:n.1459+13C>T
ENST00000264870.7:c.1459+13C>T ENSP00000264870.3:n.1459+13C>T
NM_000129.3:c.1459+13C>T , LRG_549t1:c.1459+13C>T NP_000120.2:n.1459+13C>T
XM_006715010.2:c.1459+13C>T XP_006715073.1:n.1459+13C>T
XM_011514342.1:c.1621+13C>T XP_011512644.1:n.1621+13C>T
NM_000129.4:c.1459+13C>T MANE Select NP_000120.2:n.1459+13C>T
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