Canonical Allele Identifier: CA3147086

Gene: AGA

Linked Data

• dbSNP Id: rs376050862
• ExAC: 4:178363530 C / T
• gnomAD v2: 4-178363530-C-T
• gnomAD v3: 4-177442376-C-T
• gnomAD v4: 4-177442376-C-T
• MyVariant Identifiers: chr4:g.178363530C>T (hg19) ; chr4:g.177442376C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442376C>T , CM000666.2:g.177442376C>T	GRCh38
NC_000004.11:g.178363530C>T , CM000666.1:g.178363530C>T	GRCh37
NC_000004.10:g.178600524C>T	NCBI36
NG_011845.2:g.5128G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.-1G>A MANE Select	ENSP00000264595.2:n.-1G>A
ENST00000264595.6:c.-1G>A	ENSP00000264595.2:n.-1G>A
ENST00000506853.5:n.34G>A
ENST00000510955.5:n.34G>A
ENST00000511231.1:n.34G>A
NM_000027.3:c.-1G>A	NP_000018.2:n.-1G>A
NM_001171988.1:c.-1G>A	NP_001165459.1:n.-1G>A
NR_033655.1:n.128G>A
XM_006714123.2:c.-1G>A	XP_006714186.1:n.-1G>A
XR_001741155.2:n.94G>A
NM_000027.4:c.-1G>A MANE Select	NP_000018.2:n.-1G>A
NM_001171988.2:c.-1G>A	NP_001165459.1:n.-1G>A
NR_033655.2:n.62G>A