Canonical Allele Identifier: CA791504235
Gene: AGA HGNC NCBI

Linked Data

dbSNP Id: rs1161576499
gnomAD v4: 4-177442497-C-A
MyVariant Identifiers: chr4:g.178363651C>A (hg19) chr4:g.177442497C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442497C>A , CM000666.2:g.177442497C>A GRCh38
NC_000004.11:g.178363651C>A , CM000666.1:g.178363651C>A GRCh37
NC_000004.10:g.178600645C>A NCBI36
NG_011845.2:g.5007G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.6:c.-122G>T ENSP00000264595.2:n.-122G>T
NM_000027.3:c.-122G>T NP_000018.2:n.-122G>T
NM_001171988.1:c.-122G>T NP_001165459.1:n.-122G>T
NR_033655.1:n.7G>T
XM_006714123.2:c.-122G>T XP_006714186.1:n.-122G>T
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