Canonical Allele Identifier: CA540752914

Gene: AGXT

Linked Data

• dbSNP Id: rs1327188554
• gnomAD v2: 2-241808267-A-C
• gnomAD v3: 2-240868850-A-C
• gnomAD v4: 2-240868850-A-C
• MyVariant Identifiers: chr2:g.241808267A>C (hg19) ; chr2:g.240868850A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240868850A>C , CM000664.2:g.240868850A>C	GRCh38
NC_000002.11:g.241808267A>C , CM000664.1:g.241808267A>C	GRCh37
NC_000002.10:g.241456940A>C	NCBI36
NG_008005.1:g.5106A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.-16A>C MANE Select	ENSP00000302620.3:n.-16A>C
ENST00000307503.3:c.-16A>C	ENSP00000302620.3:n.-16A>C
ENST00000472436.1:n.5A>C
NM_000030.2:c.-16A>C	NP_000021.1:n.-16A>C
XR_924060.1:n.405+1383T>G
NM_000030.3:c.-16A>C MANE Select	NP_000021.1:n.-16A>C