Canonical Allele Identifier: CA442332655
Gene: AGA HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.178359941A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177438787A>G , CM000666.2:g.177438787A>G GRCh38
NC_000004.11:g.178359941A>G , CM000666.1:g.178359941A>G GRCh37
NC_000004.10:g.178596935A>G NCBI36
NG_011845.2:g.8717T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.465T>C MANE Select ENSP00000264595.2:p.His155=
ENST00000264595.6:c.465T>C ENSP00000264595.2:p.His155=
ENST00000502310.5:c.120T>C ENSP00000423798.1:p.His40=
ENST00000506853.5:n.499T>C
ENST00000510635.1:c.161T>C
ENST00000510955.5:n.386T>C
NM_000027.3:c.465T>C NP_000018.2:p.His155=
NM_001171988.1:c.465T>C NP_001165459.1:p.His155=
NR_033655.1:n.593T>C
XM_006714123.2:c.465T>C XP_006714186.1:p.His155=
XR_001741155.2:n.559T>C
NM_000027.4:c.465T>C MANE Select NP_000018.2:p.His155=
NM_001171988.2:c.465T>C NP_001165459.1:p.His155=
NR_033655.2:n.527T>C