Canonical Allele Identifier: CA442333125
Gene: AGA HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.178363425G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442271G>T , CM000666.2:g.177442271G>T GRCh38
NC_000004.11:g.178363425G>T , CM000666.1:g.178363425G>T GRCh37
NC_000004.10:g.178600419G>T NCBI36
NG_011845.2:g.5233C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.105C>A MANE Select ENSP00000264595.2:p.Pro35=
ENST00000264595.6:c.105C>A ENSP00000264595.2:p.Pro35=
ENST00000506853.5:n.139C>A
ENST00000510955.5:n.139C>A
ENST00000511231.1:n.139C>A
NM_000027.3:c.105C>A NP_000018.2:p.Pro35=
NM_001171988.1:c.105C>A NP_001165459.1:p.Pro35=
NR_033655.1:n.233C>A
XM_006714123.2:c.105C>A XP_006714186.1:p.Pro35=
XR_001741155.2:n.199C>A
NM_000027.4:c.105C>A MANE Select NP_000018.2:p.Pro35=
NM_001171988.2:c.105C>A NP_001165459.1:p.Pro35=
NR_033655.2:n.167C>A