Canonical Allele Identifier: CA358783540

Gene: AGA

Linked Data

• dbSNP Id: rs1736926317
• gnomAD v4: 4-177439588-C-G
• MyVariant Identifiers: chr4:g.178360742C>G (hg19) ; chr4:g.177439588C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439588C>G , CM000666.2:g.177439588C>G	GRCh38
NC_000004.11:g.178360742C>G , CM000666.1:g.178360742C>G	GRCh37
NC_000004.10:g.178597736C>G	NCBI36
NG_011845.2:g.7916G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.382G>C MANE Select	ENSP00000264595.2:p.Val128Leu
ENST00000264595.6:c.382G>C	ENSP00000264595.2:p.Val128Leu
ENST00000502310.5:c.37G>C	ENSP00000423798.1:p.Val13Leu
ENST00000506853.5:n.416G>C
ENST00000510635.1:c.78G>C
ENST00000510955.5:n.315+685G>C
NM_000027.3:c.382G>C	NP_000018.2:p.Val128Leu
NM_001171988.1:c.382G>C	NP_001165459.1:p.Val128Leu
NR_033655.1:n.510G>C
XM_006714123.2:c.382G>C	XP_006714186.1:p.Val128Leu
XR_001741155.2:n.476G>C
NM_000027.4:c.382G>C MANE Select	NP_000018.2:p.Val128Leu
NM_001171988.2:c.382G>C	NP_001165459.1:p.Val128Leu
NR_033655.2:n.444G>C