Canonical Allele Identifier: CA3147125
Gene: AGA HGNC NCBI

Linked Data

dbSNP Id: rs780075139
ExAC: 4:178363610 C / G
gnomAD v2: 4-178363610-C-G
gnomAD v4: 4-177442456-C-G
MyVariant Identifiers: chr4:g.178363610C>G (hg19) chr4:g.177442456C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442456C>G , CM000666.2:g.177442456C>G GRCh38
NC_000004.11:g.178363610C>G , CM000666.1:g.178363610C>G GRCh37
NC_000004.10:g.178600604C>G NCBI36
NG_011845.2:g.5048G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.6:c.-81G>C ENSP00000264595.2:n.-81G>C
NM_000027.3:c.-81G>C NP_000018.2:n.-81G>C
NM_001171988.1:c.-81G>C NP_001165459.1:n.-81G>C
NR_033655.1:n.48G>C
XM_006714123.2:c.-81G>C XP_006714186.1:n.-81G>C
XR_001741155.2:n.14G>C
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