Canonical Allele Identifier: CA3146913

Gene: AGA

Linked Data

• dbSNP Id: rs202033374
• ExAC: 4:178359949 C / T
• gnomAD v2: 4-178359949-C-T
• COSMIC: COSM140503
• MyVariant Identifiers: chr4:g.178359949C>T (hg19) ; chr4:g.177438795C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177438795C>T , CM000666.2:g.177438795C>T	GRCh38
NC_000004.11:g.178359949C>T , CM000666.1:g.178359949C>T	GRCh37
NC_000004.10:g.178596943C>T	NCBI36
NG_011845.2:g.8709G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.457G>A MANE Select	ENSP00000264595.2:p.Ala153Thr
ENST00000264595.6:c.457G>A	ENSP00000264595.2:p.Ala153Thr
ENST00000502310.5:c.112G>A	ENSP00000423798.1:p.Ala38Thr
ENST00000506853.5:n.491G>A
ENST00000510635.1:c.153G>A
ENST00000510955.5:n.378G>A
NM_000027.3:c.457G>A	NP_000018.2:p.Ala153Thr
NM_001171988.1:c.457G>A	NP_001165459.1:p.Ala153Thr
NR_033655.1:n.585G>A
XM_006714123.2:c.457G>A	XP_006714186.1:p.Ala153Thr
XR_001741155.2:n.551G>A
NM_000027.4:c.457G>A MANE Select	NP_000018.2:p.Ala153Thr
NM_001171988.2:c.457G>A	NP_001165459.1:p.Ala153Thr
NR_033655.2:n.519G>A