Canonical Allele Identifier: CA358782045

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178355552T>C (hg19) ; chr4:g.177434398T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434398T>C , CM000666.2:g.177434398T>C	GRCh38
NC_000004.11:g.178355552T>C , CM000666.1:g.178355552T>C	GRCh37
NC_000004.10:g.178592546T>C	NCBI36
NG_011845.2:g.13106A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.790A>G MANE Select	ENSP00000264595.2:p.Met264Val
ENST00000264595.6:c.790A>G	ENSP00000264595.2:p.Met264Val
ENST00000502310.5:c.361A>G	ENSP00000423798.1:p.Met121Val
ENST00000506853.5:n.748A>G
NM_000027.3:c.790A>G	NP_000018.2:p.Met264Val
NM_001171988.1:c.760A>G	NP_001165459.1:p.Met254Val
NR_033655.1:n.842A>G
XM_006714123.2:c.*84A>G	XP_006714186.1:n.*84A>G
XR_001741155.2:n.862A>G
NM_000027.4:c.790A>G MANE Select	NP_000018.2:p.Met264Val
NM_001171988.2:c.760A>G	NP_001165459.1:p.Met254Val
NR_033655.2:n.776A>G