Canonical Allele Identifier: CA442333144
Gene: AGA HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.178363443C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442289C>G , CM000666.2:g.177442289C>G GRCh38
NC_000004.11:g.178363443C>G , CM000666.1:g.178363443C>G GRCh37
NC_000004.10:g.178600437C>G NCBI36
NG_011845.2:g.5215G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264595.7:c.87G>C MANE Select ENSP00000264595.2:p.Leu29=
ENST00000264595.6:c.87G>C ENSP00000264595.2:p.Leu29=
ENST00000506853.5:n.121G>C
ENST00000510955.5:n.121G>C
ENST00000511231.1:n.121G>C
NM_000027.3:c.87G>C NP_000018.2:p.Leu29=
NM_001171988.1:c.87G>C NP_001165459.1:p.Leu29=
NR_033655.1:n.215G>C
XM_006714123.2:c.87G>C XP_006714186.1:p.Leu29=
XR_001741155.2:n.181G>C
NM_000027.4:c.87G>C MANE Select NP_000018.2:p.Leu29=
NM_001171988.2:c.87G>C NP_001165459.1:p.Leu29=
NR_033655.2:n.149G>C