Canonical Allele Identifier: CA3147069

Gene: AGA

Linked Data

• dbSNP Id: rs774714950
• ExAC: 4:178363490 A / G
• gnomAD v2: 4-178363490-A-G
• gnomAD v4: 4-177442336-A-G
• MyVariant Identifiers: chr4:g.178363490A>G (hg19) ; chr4:g.177442336A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442336A>G , CM000666.2:g.177442336A>G	GRCh38
NC_000004.11:g.178363490A>G , CM000666.1:g.178363490A>G	GRCh37
NC_000004.10:g.178600484A>G	NCBI36
NG_011845.2:g.5168T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.40T>C MANE Select	ENSP00000264595.2:p.Phe14Leu
ENST00000264595.6:c.40T>C	ENSP00000264595.2:p.Phe14Leu
ENST00000506853.5:n.74T>C
ENST00000510955.5:n.74T>C
ENST00000511231.1:n.74T>C
NM_000027.3:c.40T>C	NP_000018.2:p.Phe14Leu
NM_001171988.1:c.40T>C	NP_001165459.1:p.Phe14Leu
NR_033655.1:n.168T>C
XM_006714123.2:c.40T>C	XP_006714186.1:p.Phe14Leu
XR_001741155.2:n.134T>C
NM_000027.4:c.40T>C MANE Select	NP_000018.2:p.Phe14Leu
NM_001171988.2:c.40T>C	NP_001165459.1:p.Phe14Leu
NR_033655.2:n.102T>C