Canonical Allele Identifier: CA358783468

Gene: AGA

Linked Data

• dbSNP Id: rs1467200206
• MyVariant Identifiers: chr4:g.178359995T>G (hg19) ; chr4:g.177438841T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177438841T>G , CM000666.2:g.177438841T>G	GRCh38
NC_000004.11:g.178359995T>G , CM000666.1:g.178359995T>G	GRCh37
NC_000004.10:g.178596989T>G	NCBI36
NG_011845.2:g.8663A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.411A>C MANE Select	ENSP00000264595.2:p.Gln137His
ENST00000264595.6:c.411A>C	ENSP00000264595.2:p.Gln137His
ENST00000502310.5:c.66A>C	ENSP00000423798.1:p.Gln22His
ENST00000506853.5:n.445A>C
ENST00000510635.1:c.107A>C
ENST00000510955.5:n.332A>C
NM_000027.3:c.411A>C	NP_000018.2:p.Gln137His
NM_001171988.1:c.411A>C	NP_001165459.1:p.Gln137His
NR_033655.1:n.539A>C
XM_006714123.2:c.411A>C	XP_006714186.1:p.Gln137His
XR_001741155.2:n.505A>C
NM_000027.4:c.411A>C MANE Select	NP_000018.2:p.Gln137His
NM_001171988.2:c.411A>C	NP_001165459.1:p.Gln137His
NR_033655.2:n.473A>C