Canonical Allele Identifier: CA110791787

Gene: AGA

Linked Data

• dbSNP Id: rs763679698
• MyVariant Identifiers: chr4:g.178363454G>C (hg19) ; chr4:g.177442300G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442300G>C , CM000666.2:g.177442300G>C	GRCh38
NC_000004.11:g.178363454G>C , CM000666.1:g.178363454G>C	GRCh37
NC_000004.10:g.178600448G>C	NCBI36
NG_011845.2:g.5204C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.76C>G MANE Select	ENSP00000264595.2:p.Pro26Ala
ENST00000264595.6:c.76C>G	ENSP00000264595.2:p.Pro26Ala
ENST00000506853.5:n.110C>G
ENST00000510955.5:n.110C>G
ENST00000511231.1:n.110C>G
NM_000027.3:c.76C>G	NP_000018.2:p.Pro26Ala
NM_001171988.1:c.76C>G	NP_001165459.1:p.Pro26Ala
NR_033655.1:n.204C>G
XM_006714123.2:c.76C>G	XP_006714186.1:p.Pro26Ala
XR_001741155.2:n.170C>G
NM_000027.4:c.76C>G MANE Select	NP_000018.2:p.Pro26Ala
NM_001171988.2:c.76C>G	NP_001165459.1:p.Pro26Ala
NR_033655.2:n.138C>G