Canonical Allele Identifier: CA358783149

Gene: AGA

Linked Data

• gnomAD v4: 4-177438748-C-T
• COSMIC: COSM5572094
• MyVariant Identifiers: chr4:g.178359902C>T (hg19) ; chr4:g.177438748C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177438748C>T , CM000666.2:g.177438748C>T	GRCh38
NC_000004.11:g.178359902C>T , CM000666.1:g.178359902C>T	GRCh37
NC_000004.10:g.178596896C>T	NCBI36
NG_011845.2:g.8756G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.504G>A MANE Select	ENSP00000264595.2:p.Trp168Ter
ENST00000264595.6:c.504G>A	ENSP00000264595.2:p.Trp168Ter
ENST00000502310.5:c.159G>A	ENSP00000423798.1:p.Trp53Ter
ENST00000506853.5:n.538G>A
ENST00000510635.1:c.200G>A
ENST00000510955.5:n.425G>A
NM_000027.3:c.504G>A	NP_000018.2:p.Trp168Ter
NM_001171988.1:c.504G>A	NP_001165459.1:p.Trp168Ter
NR_033655.1:n.632G>A
XM_006714123.2:c.504G>A	XP_006714186.1:p.Trp168Ter
XR_001741155.2:n.598G>A
NM_000027.4:c.504G>A MANE Select	NP_000018.2:p.Trp168Ter
NM_001171988.2:c.504G>A	NP_001165459.1:p.Trp168Ter
NR_033655.2:n.566G>A