Canonical Allele Identifier: CA3146942

Gene: AGA

Linked Data

• ClinVar Variation Id: 650146
• ClinVar RCV Id: RCV000805244 ; RCV001251880 ; RCV002279539
• dbSNP Id: rs200420067
• ExAC: 4:178360748 G / C
• gnomAD v2: 4-178360748-G-C
• gnomAD v3: 4-177439594-G-C
• gnomAD v4: 4-177439594-G-C
• MyVariant Identifiers: chr4:g.178360748G>C (hg19) ; chr4:g.177439594G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439594G>C , CM000666.2:g.177439594G>C	GRCh38
NC_000004.11:g.178360748G>C , CM000666.1:g.178360748G>C	GRCh37
NC_000004.10:g.178597742G>C	NCBI36
NG_011845.2:g.7910C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.376C>G MANE Select	ENSP00000264595.2:p.Leu126Val
ENST00000264595.6:c.376C>G	ENSP00000264595.2:p.Leu126Val
ENST00000502310.5:c.31C>G	ENSP00000423798.1:p.Leu11Val
ENST00000506853.5:n.410C>G
ENST00000510635.1:c.72C>G
ENST00000510955.5:n.315+679C>G
NM_000027.3:c.376C>G	NP_000018.2:p.Leu126Val
NM_001171988.1:c.376C>G	NP_001165459.1:p.Leu126Val
NR_033655.1:n.504C>G
XM_006714123.2:c.376C>G	XP_006714186.1:p.Leu126Val
XR_001741155.2:n.470C>G
NM_000027.4:c.376C>G MANE Select	NP_000018.2:p.Leu126Val
NM_001171988.2:c.376C>G	NP_001165459.1:p.Leu126Val
NR_033655.2:n.438C>G