Canonical Allele Identifier: CA358782175

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178355572G>C (hg19) ; chr4:g.177434418G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434418G>C , CM000666.2:g.177434418G>C	GRCh38
NC_000004.11:g.178355572G>C , CM000666.1:g.178355572G>C	GRCh37
NC_000004.10:g.178592566G>C	NCBI36
NG_011845.2:g.13086C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.770C>G MANE Select	ENSP00000264595.2:p.Thr257Ser
ENST00000264595.6:c.770C>G	ENSP00000264595.2:p.Thr257Ser
ENST00000502310.5:c.341C>G	ENSP00000423798.1:p.Thr114Ser
ENST00000506853.5:n.728C>G
NM_000027.3:c.770C>G	NP_000018.2:p.Thr257Ser
NM_001171988.1:c.740C>G	NP_001165459.1:p.Thr247Ser
NR_033655.1:n.822C>G
XM_006714123.2:c.*64C>G	XP_006714186.1:n.*64C>G
XR_001741155.2:n.842C>G
NM_000027.4:c.770C>G MANE Select	NP_000018.2:p.Thr257Ser
NM_001171988.2:c.740C>G	NP_001165459.1:p.Thr247Ser
NR_033655.2:n.756C>G