Canonical Allele Identifier: CA2672746373

Gene: AGA

Linked Data

• gnomAD v4: 4-177434361-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434361T>C , CM000666.2:g.177434361T>C	GRCh38
NC_000004.11:g.178355515T>C , CM000666.1:g.178355515T>C	GRCh37
NC_000004.10:g.178592509T>C	NCBI36
NG_011845.2:g.13143A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.806+21A>G MANE Select	ENSP00000264595.2:n.806+21A>G
ENST00000264595.6:c.806+21A>G	ENSP00000264595.2:n.806+21A>G
ENST00000502310.5:c.377+21A>G	ENSP00000423798.1:n.377+21A>G
NM_000027.3:c.806+21A>G	NP_000018.2:n.806+21A>G
NM_001171988.1:c.776+21A>G	NP_001165459.1:n.776+21A>G
NR_033655.1:n.858+21A>G
XR_001741155.2:n.878+21A>G
NM_000027.4:c.806+21A>G MANE Select	NP_000018.2:n.806+21A>G
NM_001171988.2:c.776+21A>G	NP_001165459.1:n.776+21A>G
NR_033655.2:n.792+21A>G