Canonical Allele Identifier: CA2672746435

Gene: AGA

Linked Data

• gnomAD v4: 4-177434592-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434592C>G , CM000666.2:g.177434592C>G	GRCh38
NC_000004.11:g.178355746C>G , CM000666.1:g.178355746C>G	GRCh37
NC_000004.10:g.178592740C>G	NCBI36
NG_011845.2:g.12912G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.699-103G>C MANE Select	ENSP00000264595.2:n.699-103G>C
ENST00000264595.6:c.699-103G>C	ENSP00000264595.2:n.699-103G>C
ENST00000502310.5:c.278-111G>C	ENSP00000423798.1:n.278-111G>C
ENST00000506853.5:n.657-103G>C
ENST00000510635.1:c.373-111G>C
NM_000027.3:c.699-103G>C	NP_000018.2:n.699-103G>C
NM_001171988.1:c.677-111G>C	NP_001165459.1:n.677-111G>C
NR_033655.1:n.751-103G>C
XM_006714123.2:c.677-103G>C	XP_006714186.1:n.677-103G>C
XR_001741155.2:n.771-103G>C
NM_000027.4:c.699-103G>C MANE Select	NP_000018.2:n.699-103G>C
NM_001171988.2:c.677-111G>C	NP_001165459.1:n.677-111G>C
NR_033655.2:n.685-103G>C