Canonical Allele Identifier: CA3147058

Gene: AGA

Linked Data

• dbSNP Id: rs756941180
• ExAC: 4:178363459 G / A
• gnomAD v2: 4-178363459-G-A
• gnomAD v4: 4-177442305-G-A
• MyVariant Identifiers: chr4:g.178363459G>A (hg19) ; chr4:g.177442305G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442305G>A , CM000666.2:g.177442305G>A	GRCh38
NC_000004.11:g.178363459G>A , CM000666.1:g.178363459G>A	GRCh37
NC_000004.10:g.178600453G>A	NCBI36
NG_011845.2:g.5199C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.71C>T MANE Select	ENSP00000264595.2:p.Ser24Phe
ENST00000264595.6:c.71C>T	ENSP00000264595.2:p.Ser24Phe
ENST00000506853.5:n.105C>T
ENST00000510955.5:n.105C>T
ENST00000511231.1:n.105C>T
NM_000027.3:c.71C>T	NP_000018.2:p.Ser24Phe
NM_001171988.1:c.71C>T	NP_001165459.1:p.Ser24Phe
NR_033655.1:n.199C>T
XM_006714123.2:c.71C>T	XP_006714186.1:p.Ser24Phe
XR_001741155.2:n.165C>T
NM_000027.4:c.71C>T MANE Select	NP_000018.2:p.Ser24Phe
NM_001171988.2:c.71C>T	NP_001165459.1:p.Ser24Phe
NR_033655.2:n.133C>T