Canonical Allele Identifier: CA110789250

Gene: AGA

Linked Data

• dbSNP Id: rs147480771
• MyVariant Identifiers: chr4:g.178358668A>C (hg19) ; chr4:g.177437514A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437514A>C , CM000666.2:g.177437514A>C	GRCh38
NC_000004.11:g.178358668A>C , CM000666.1:g.178358668A>C	GRCh37
NC_000004.10:g.178595662A>C	NCBI36
NG_011845.2:g.9990T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.513T>G MANE Select	ENSP00000264595.2:p.Val171=
ENST00000264595.6:c.513T>G	ENSP00000264595.2:p.Val171=
ENST00000502310.5:c.168T>G	ENSP00000423798.1:p.Val56=
ENST00000506853.5:n.547T>G
ENST00000510635.1:c.209T>G
ENST00000510955.5:n.434T>G
NM_000027.3:c.513T>G	NP_000018.2:p.Val171=
NM_001171988.1:c.513T>G	NP_001165459.1:p.Val171=
NR_033655.1:n.641T>G
XM_006714123.2:c.513T>G	XP_006714186.1:p.Val171=
XR_001741155.2:n.607T>G
NM_000027.4:c.513T>G MANE Select	NP_000018.2:p.Val171=
NM_001171988.2:c.513T>G	NP_001165459.1:p.Val171=
NR_033655.2:n.575T>G