Canonical Allele Identifier: CA2672746362

Gene: AGA

Linked Data

• gnomAD v4: 4-177434330-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434330A>G , CM000666.2:g.177434330A>G	GRCh38
NC_000004.11:g.178355484A>G , CM000666.1:g.178355484A>G	GRCh37
NC_000004.10:g.178592478A>G	NCBI36
NG_011845.2:g.13174T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.806+52T>C MANE Select	ENSP00000264595.2:n.806+52T>C
ENST00000264595.6:c.806+52T>C	ENSP00000264595.2:n.806+52T>C
ENST00000502310.5:c.377+52T>C	ENSP00000423798.1:n.377+52T>C
NM_000027.3:c.806+52T>C	NP_000018.2:n.806+52T>C
NM_001171988.1:c.776+52T>C	NP_001165459.1:n.776+52T>C
NR_033655.1:n.858+52T>C
XR_001741155.2:n.878+52T>C
NM_000027.4:c.806+52T>C MANE Select	NP_000018.2:n.806+52T>C
NM_001171988.2:c.776+52T>C	NP_001165459.1:n.776+52T>C
NR_033655.2:n.792+52T>C