Canonical Allele Identifier: CA3147080

Gene: AGA

Linked Data

• dbSNP Id: rs537097287
• ExAC: 4:178363509 C / A
• gnomAD v2: 4-178363509-C-A
• gnomAD v3: 4-177442355-C-A
• gnomAD v4: 4-177442355-C-A
• MyVariant Identifiers: chr4:g.178363509C>A (hg19) ; chr4:g.177442355C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442355C>A , CM000666.2:g.177442355C>A	GRCh38
NC_000004.11:g.178363509C>A , CM000666.1:g.178363509C>A	GRCh37
NC_000004.10:g.178600503C>A	NCBI36
NG_011845.2:g.5149G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.21G>T MANE Select	ENSP00000264595.2:p.Leu7Phe
ENST00000264595.6:c.21G>T	ENSP00000264595.2:p.Leu7Phe
ENST00000506853.5:n.55G>T
ENST00000510955.5:n.55G>T
ENST00000511231.1:n.55G>T
NM_000027.3:c.21G>T	NP_000018.2:p.Leu7Phe
NM_001171988.1:c.21G>T	NP_001165459.1:p.Leu7Phe
NR_033655.1:n.149G>T
XM_006714123.2:c.21G>T	XP_006714186.1:p.Leu7Phe
XR_001741155.2:n.115G>T
NM_000027.4:c.21G>T MANE Select	NP_000018.2:p.Leu7Phe
NM_001171988.2:c.21G>T	NP_001165459.1:p.Leu7Phe
NR_033655.2:n.83G>T