Canonical Allele Identifier: CA358783547

Gene: AGA

Linked Data

• dbSNP Id: rs1460079524
• gnomAD v3: 4-177439591-A-C
• gnomAD v4: 4-177439591-A-C
• MyVariant Identifiers: chr4:g.178360745A>C (hg19) ; chr4:g.177439591A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439591A>C , CM000666.2:g.177439591A>C	GRCh38
NC_000004.11:g.178360745A>C , CM000666.1:g.178360745A>C	GRCh37
NC_000004.10:g.178597739A>C	NCBI36
NG_011845.2:g.7913T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.379T>G MANE Select	ENSP00000264595.2:p.Leu127Val
ENST00000264595.6:c.379T>G	ENSP00000264595.2:p.Leu127Val
ENST00000502310.5:c.34T>G	ENSP00000423798.1:p.Leu12Val
ENST00000506853.5:n.413T>G
ENST00000510635.1:c.75T>G
ENST00000510955.5:n.315+682T>G
NM_000027.3:c.379T>G	NP_000018.2:p.Leu127Val
NM_001171988.1:c.379T>G	NP_001165459.1:p.Leu127Val
NR_033655.1:n.507T>G
XM_006714123.2:c.379T>G	XP_006714186.1:p.Leu127Val
XR_001741155.2:n.473T>G
NM_000027.4:c.379T>G MANE Select	NP_000018.2:p.Leu127Val
NM_001171988.2:c.379T>G	NP_001165459.1:p.Leu127Val
NR_033655.2:n.441T>G