Canonical Allele Identifier: CA565299523

Gene: F13A1

Linked Data

• dbSNP Id: rs750927781
• gnomAD v2: 6-6286308-G-A
• gnomAD v3: 6-6286075-G-A
• gnomAD v4: 6-6286075-G-A
• MyVariant Identifiers: chr6:g.6286308G>A (hg19) ; chr6:g.6286075G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.6286075G>A , CM000668.2:g.6286075G>A	GRCh38
NC_000006.11:g.6286308G>A , CM000668.1:g.6286308G>A	GRCh37
NC_000006.10:g.6231307G>A	NCBI36
NG_008107.1:g.39617C>T , LRG_549:g.39617C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264870.8:c.320-19266C>T MANE Select	ENSP00000264870.3:n.320-19266C>T
ENST00000264870.7:c.320-19266C>T	ENSP00000264870.3:n.320-19266C>T
ENST00000414279.5:c.320-19266C>T	ENSP00000413334.1:n.320-19266C>T
ENST00000431222.6:c.482-19266C>T	ENSP00000416295.2:n.482-19266C>T
ENST00000479211.1:n.305-19266C>T
NM_000129.3:c.320-19266C>T , LRG_549t1:c.320-19266C>T	NP_000120.2:n.320-19266C>T
XM_006715010.2:c.320-19266C>T	XP_006715073.1:n.320-19266C>T
XM_011514342.1:c.482-19266C>T	XP_011512644.1:n.482-19266C>T
NM_000129.4:c.320-19266C>T MANE Select	NP_000120.2:n.320-19266C>T