Canonical Allele Identifier: CA3147094

Gene: AGA

Linked Data

• dbSNP Id: rs750045881
• ExAC: 4:178363538 A / T
• gnomAD v2: 4-178363538-A-T
• gnomAD v3: 4-177442384-A-T
• gnomAD v4: 4-177442384-A-T
• MyVariant Identifiers: chr4:g.178363538A>T (hg19) ; chr4:g.177442384A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442384A>T , CM000666.2:g.177442384A>T	GRCh38
NC_000004.11:g.178363538A>T , CM000666.1:g.178363538A>T	GRCh37
NC_000004.10:g.178600532A>T	NCBI36
NG_011845.2:g.5120T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.-9T>A MANE Select	ENSP00000264595.2:n.-9T>A
ENST00000264595.6:c.-9T>A	ENSP00000264595.2:n.-9T>A
ENST00000506853.5:n.26T>A
ENST00000510955.5:n.26T>A
ENST00000511231.1:n.26T>A
NM_000027.3:c.-9T>A	NP_000018.2:n.-9T>A
NM_001171988.1:c.-9T>A	NP_001165459.1:n.-9T>A
NR_033655.1:n.120T>A
XM_006714123.2:c.-9T>A	XP_006714186.1:n.-9T>A
XR_001741155.2:n.86T>A
NM_000027.4:c.-9T>A MANE Select	NP_000018.2:n.-9T>A
NM_001171988.2:c.-9T>A	NP_001165459.1:n.-9T>A
NR_033655.2:n.54T>A