Canonical Allele Identifier: CA442332675
Gene: AGA HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.178359965A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177438811A>C , CM000666.2:g.177438811A>C GRCh38
NC_000004.11:g.178359965A>C , CM000666.1:g.178359965A>C GRCh37
NC_000004.10:g.178596959A>C NCBI36
NG_011845.2:g.8693T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.441T>G MANE Select ENSP00000264595.2:p.Ser147=
ENST00000264595.6:c.441T>G ENSP00000264595.2:p.Ser147=
ENST00000502310.5:c.96T>G ENSP00000423798.1:p.Ser32=
ENST00000506853.5:n.475T>G
ENST00000510635.1:c.137T>G
ENST00000510955.5:n.362T>G
NM_000027.3:c.441T>G NP_000018.2:p.Ser147=
NM_001171988.1:c.441T>G NP_001165459.1:p.Ser147=
NR_033655.1:n.569T>G
XM_006714123.2:c.441T>G XP_006714186.1:p.Ser147=
XR_001741155.2:n.535T>G
NM_000027.4:c.441T>G MANE Select NP_000018.2:p.Ser147=
NM_001171988.2:c.441T>G NP_001165459.1:p.Ser147=
NR_033655.2:n.503T>G