Canonical Allele Identifier: CA134398172

Gene: F13A1

Linked Data

• dbSNP Id: rs989171980
• gnomAD v2: 6-6286307-C-T
• gnomAD v3: 6-6286074-C-T
• gnomAD v4: 6-6286074-C-T
• MyVariant Identifiers: chr6:g.6286307C>T (hg19) ; chr6:g.6286074C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.6286074C>T , CM000668.2:g.6286074C>T	GRCh38
NC_000006.11:g.6286307C>T , CM000668.1:g.6286307C>T	GRCh37
NC_000006.10:g.6231306C>T	NCBI36
NG_008107.1:g.39618G>A , LRG_549:g.39618G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264870.8:c.320-19265G>A MANE Select	ENSP00000264870.3:n.320-19265G>A
ENST00000264870.7:c.320-19265G>A	ENSP00000264870.3:n.320-19265G>A
ENST00000414279.5:c.320-19265G>A	ENSP00000413334.1:n.320-19265G>A
ENST00000431222.6:c.482-19265G>A	ENSP00000416295.2:n.482-19265G>A
ENST00000479211.1:n.305-19265G>A
NM_000129.3:c.320-19265G>A , LRG_549t1:c.320-19265G>A	NP_000120.2:n.320-19265G>A
XM_006715010.2:c.320-19265G>A	XP_006715073.1:n.320-19265G>A
XM_011514342.1:c.482-19265G>A	XP_011512644.1:n.482-19265G>A
NM_000129.4:c.320-19265G>A MANE Select	NP_000120.2:n.320-19265G>A