Canonical Allele Identifier: CA556485817
Gene: AGA HGNC NCBI

Linked Data

dbSNP Id: rs1181355109
gnomAD v2: 4-178363618-G-A
gnomAD v4: 4-177442464-G-A
MyVariant Identifiers: chr4:g.178363618G>A (hg19) chr4:g.177442464G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442464G>A , CM000666.2:g.177442464G>A GRCh38
NC_000004.11:g.178363618G>A , CM000666.1:g.178363618G>A GRCh37
NC_000004.10:g.178600612G>A NCBI36
NG_011845.2:g.5040C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.6:c.-89C>T ENSP00000264595.2:n.-89C>T
NM_000027.3:c.-89C>T NP_000018.2:n.-89C>T
NM_001171988.1:c.-89C>T NP_001165459.1:n.-89C>T
NR_033655.1:n.40C>T
XM_006714123.2:c.-89C>T XP_006714186.1:n.-89C>T
XR_001741155.2:n.6C>T
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