Canonical Allele Identifier: CA442332645

Gene: AGA

Linked Data

• gnomAD v4: 4-177438772-A-C
• MyVariant Identifiers: chr4:g.178359926A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177438772A>C , CM000666.2:g.177438772A>C	GRCh38
NC_000004.11:g.178359926A>C , CM000666.1:g.178359926A>C	GRCh37
NC_000004.10:g.178596920A>C	NCBI36
NG_011845.2:g.8732T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.480T>G MANE Select	ENSP00000264595.2:p.Ala160=
ENST00000264595.6:c.480T>G	ENSP00000264595.2:p.Ala160=
ENST00000502310.5:c.135T>G	ENSP00000423798.1:p.Ala45=
ENST00000506853.5:n.514T>G
ENST00000510635.1:c.176T>G
ENST00000510955.5:n.401T>G
NM_000027.3:c.480T>G	NP_000018.2:p.Ala160=
NM_001171988.1:c.480T>G	NP_001165459.1:p.Ala160=
NR_033655.1:n.608T>G
XM_006714123.2:c.480T>G	XP_006714186.1:p.Ala160=
XR_001741155.2:n.574T>G
NM_000027.4:c.480T>G MANE Select	NP_000018.2:p.Ala160=
NM_001171988.2:c.480T>G	NP_001165459.1:p.Ala160=
NR_033655.2:n.542T>G