Canonical Allele Identifier: CA247376767

Gene: ALOX5AP

Linked Data

• dbSNP Id: rs3922435
• gnomAD v2: 13-31314680-T-C
• gnomAD v3: 13-30740543-T-C
• gnomAD v4: 13-30740543-T-C
• MyVariant Identifiers: chr13:g.31314680T>C (hg19) ; chr13:g.30740543T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.30740543T>C , CM000675.2:g.30740543T>C	GRCh38
NC_000013.10:g.31314680T>C , CM000675.1:g.31314680T>C	GRCh37
NC_000013.9:g.30212680T>C	NCBI36
NG_011963.2:g.32066T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000380490.5:c.71-3517T>C MANE Select	ENSP00000369858.3:n.71-3517T>C
ENST00000380490.4:c.71-3517T>C	ENSP00000369858.3:n.71-3517T>C
ENST00000617770.4:c.242-3517T>C	ENSP00000479870.1:n.242-3517T>C
NM_001204406.1:c.242-3517T>C	NP_001191335.1:n.242-3517T>C
NM_001629.3:c.71-3517T>C	NP_001620.2:n.71-3517T>C
XM_011535024.1:c.71-3517T>C	XP_011533326.1:n.71-3517T>C
NM_001204406.2:c.242-3517T>C	NP_001191335.1:n.242-3517T>C
NM_001629.4:c.71-3517T>C MANE Select	NP_001620.2:n.71-3517T>C