Canonical Allele Identifier: CA358783674

Gene: AGA

Linked Data

• gnomAD v4: 4-177439632-C-A
• MyVariant Identifiers: chr4:g.178360786C>A (hg19) ; chr4:g.177439632C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439632C>A , CM000666.2:g.177439632C>A	GRCh38
NC_000004.11:g.178360786C>A , CM000666.1:g.178360786C>A	GRCh37
NC_000004.10:g.178597780C>A	NCBI36
NG_011845.2:g.7872G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.338G>T MANE Select	ENSP00000264595.2:p.Gly113Val
ENST00000264595.6:c.338G>T	ENSP00000264595.2:p.Gly113Val
ENST00000506853.5:n.372G>T
ENST00000510635.1:c.34G>T
ENST00000510955.5:n.315+641G>T
NM_000027.3:c.338G>T	NP_000018.2:p.Gly113Val
NM_001171988.1:c.338G>T	NP_001165459.1:p.Gly113Val
NR_033655.1:n.466G>T
XM_006714123.2:c.338G>T	XP_006714186.1:p.Gly113Val
XR_001741155.2:n.432G>T
NM_000027.4:c.338G>T MANE Select	NP_000018.2:p.Gly113Val
NM_001171988.2:c.338G>T	NP_001165459.1:p.Gly113Val
NR_033655.2:n.400G>T