Canonical Allele Identifier: CA392951713

Gene: AAGAB

Linked Data

• gnomAD v4: 15-67236041-C-T
• MyVariant Identifiers: chr15:g.67528379C>T (hg19) ; chr15:g.67236041C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67236041C>T , CM000677.2:g.67236041C>T	GRCh38
NC_000015.9:g.67528379C>T , CM000677.1:g.67528379C>T	GRCh37
NC_000015.8:g.65315433C>T	NCBI36
NG_033007.1:g.24158G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261880.10:c.389G>A MANE Select	ENSP00000261880.5:p.Trp130Ter
ENST00000261880.9:c.389G>A	ENSP00000261880.5:p.Trp130Ter
ENST00000542650.5:c.62G>A	ENSP00000440735.1:p.Trp21Ter
ENST00000558725.5:n.412G>A
ENST00000560362.1:c.62G>A	ENSP00000453059.1:p.Trp21Ter
ENST00000561452.5:c.62G>A	ENSP00000453263.1:p.Trp21Ter
NM_001271885.1:c.62G>A	NP_001258814.1:p.Trp21Ter
NM_001271886.1:c.62G>A	NP_001258815.1:p.Trp21Ter
NM_024666.4:c.389G>A	NP_078942.3:p.Trp130Ter
XM_005254664.2:c.389G>A	XP_005254721.1:p.Trp130Ter
XM_006720683.2:c.389G>A	XP_006720746.1:p.Trp130Ter
XM_011522020.1:c.62G>A	XP_011520322.1:p.Trp21Ter
XM_024450052.1:c.389G>A	XP_024305820.1:p.Trp130Ter
XM_024450053.1:c.389G>A	XP_024305821.1:p.Trp130Ter
NM_024666.5:c.389G>A MANE Select	NP_078942.3:p.Trp130Ter
NM_001271885.2:c.62G>A	NP_001258814.1:p.Trp21Ter
NM_001271886.2:c.62G>A	NP_001258815.1:p.Trp21Ter