Canonical Allele Identifier: CA363495082

Gene: NEU1

Linked Data

• MyVariant Identifiers: chr6:g.31829197A>G (hg19) ; chr6:g.31861420A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31861420A>G , CM000668.2:g.31861420A>G	GRCh38
NC_000006.11:g.31829197A>G , CM000668.1:g.31829197A>G	GRCh37
NC_000006.10:g.31937176A>G	NCBI36
NG_008201.1:g.6513T>C
NG_023058.1:g.22627T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375631.5:c.383T>C MANE Select	ENSP00000364782.4:p.Val128Ala
ENST00000677054.1:n.1060T>C
ENST00000677512.1:n.491T>C
ENST00000678869.1:n.491T>C
ENST00000375631.4:c.383T>C	ENSP00000364782.4:p.Val128Ala
ENST00000480384.1:n.412T>C
ENST00000491768.5:c.383T>C	ENSP00000433127.1:p.Val128Ala
ENST00000495807.1:n.951T>C
NM_000434.3:c.383T>C	NP_000425.1:p.Val128Ala
NM_000434.4:c.383T>C MANE Select	NP_000425.1:p.Val128Ala