Canonical Allele Identifier: CA358784327

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178361494A>C (hg19) ; chr4:g.177440340A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177440340A>C , CM000666.2:g.177440340A>C	GRCh38
NC_000004.11:g.178361494A>C , CM000666.1:g.178361494A>C	GRCh37
NC_000004.10:g.178598488A>C	NCBI36
NG_011845.2:g.7164T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.214T>G MANE Select	ENSP00000264595.2:p.Ser72Ala
ENST00000264595.6:c.214T>G	ENSP00000264595.2:p.Ser72Ala
ENST00000506853.5:n.248T>G
ENST00000510955.5:n.248T>G
ENST00000511231.1:n.248T>G
NM_000027.3:c.214T>G	NP_000018.2:p.Ser72Ala
NM_001171988.1:c.214T>G	NP_001165459.1:p.Ser72Ala
NR_033655.1:n.342T>G
XM_006714123.2:c.214T>G	XP_006714186.1:p.Ser72Ala
XR_001741155.2:n.308T>G
NM_000027.4:c.214T>G MANE Select	NP_000018.2:p.Ser72Ala
NM_001171988.2:c.214T>G	NP_001165459.1:p.Ser72Ala
NR_033655.2:n.276T>G