Canonical Allele Identifier: CA2612728409

Gene: SAA1

Linked Data

• gnomAD v4: 11-18269971-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18269971G>T , CM000673.2:g.18269971G>T	GRCh38
NC_000011.9:g.18291518G>T , CM000673.1:g.18291518G>T	GRCh37
NC_000011.8:g.18248094G>T	NCBI36
NG_021330.1:g.8711G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356524.8:c.*116G>T	ENSP00000348918.4:n.*116G>T
ENST00000405158.2:c.*116G>T	ENSP00000384906.2:n.*116G>T
NM_000331.4:c.*116G>T	NP_000322.2:n.*116G>T
NM_001178006.1:c.*116G>T	NP_001171477.1:n.*116G>T
NM_199161.3:c.*116G>T	NP_954630.1:n.*116G>T
NM_000331.5:c.*116G>T	NP_000322.2:n.*116G>T
NM_001178006.2:c.*116G>T	NP_001171477.1:n.*116G>T
NM_199161.4:c.*116G>T	NP_954630.1:n.*116G>T