Canonical Allele Identifier: CA110790280

Gene: AGA

Linked Data

• dbSNP Id: rs978065417
• gnomAD v2: 4-178360789-A-G
• gnomAD v4: 4-177439635-A-G
• MyVariant Identifiers: chr4:g.178360789A>G (hg19) ; chr4:g.177439635A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439635A>G , CM000666.2:g.177439635A>G	GRCh38
NC_000004.11:g.178360789A>G , CM000666.1:g.178360789A>G	GRCh37
NC_000004.10:g.178597783A>G	NCBI36
NG_011845.2:g.7869T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.335T>C MANE Select	ENSP00000264595.2:p.Ile112Thr
ENST00000264595.6:c.335T>C	ENSP00000264595.2:p.Ile112Thr
ENST00000506853.5:n.369T>C
ENST00000510635.1:c.31T>C
ENST00000510955.5:n.315+638T>C
NM_000027.3:c.335T>C	NP_000018.2:p.Ile112Thr
NM_001171988.1:c.335T>C	NP_001165459.1:p.Ile112Thr
NR_033655.1:n.463T>C
XM_006714123.2:c.335T>C	XP_006714186.1:p.Ile112Thr
XR_001741155.2:n.429T>C
NM_000027.4:c.335T>C MANE Select	NP_000018.2:p.Ile112Thr
NM_001171988.2:c.335T>C	NP_001165459.1:p.Ile112Thr
NR_033655.2:n.397T>C