Canonical Allele Identifier: CA1071332337

Gene: AGA

Linked Data

• dbSNP Id: rs1737069405
• gnomAD v3: 4-177442398-C-A
• gnomAD v4: 4-177442398-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442398C>A , CM000666.2:g.177442398C>A	GRCh38
NC_000004.11:g.178363552C>A , CM000666.1:g.178363552C>A	GRCh37
NC_000004.10:g.178600546C>A	NCBI36
NG_011845.2:g.5106G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.-23G>T MANE Select	ENSP00000264595.2:n.-23G>T
ENST00000264595.6:c.-23G>T	ENSP00000264595.2:n.-23G>T
ENST00000506853.5:n.12G>T
ENST00000510955.5:n.12G>T
ENST00000511231.1:n.12G>T
NM_000027.3:c.-23G>T	NP_000018.2:n.-23G>T
NM_001171988.1:c.-23G>T	NP_001165459.1:n.-23G>T
NR_033655.1:n.106G>T
XM_006714123.2:c.-23G>T	XP_006714186.1:n.-23G>T
XR_001741155.2:n.72G>T
NM_000027.4:c.-23G>T MANE Select	NP_000018.2:n.-23G>T
NM_001171988.2:c.-23G>T	NP_001165459.1:n.-23G>T
NR_033655.2:n.40G>T