Canonical Allele Identifier: CA363484723

Gene: NEU1

Linked Data

• MyVariant Identifiers: chr6:g.31827527A>G (hg19) ; chr6:g.31859750A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31859750A>G , CM000668.2:g.31859750A>G	GRCh38
NC_000006.11:g.31827527A>G , CM000668.1:g.31827527A>G	GRCh37
NC_000006.10:g.31935506A>G	NCBI36
NG_008201.1:g.8183T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000375631.5:c.1217T>C MANE Select	ENSP00000364782.4:p.Val406Ala
ENST00000677054.1:n.2556T>C
ENST00000677512.1:n.1494T>C
ENST00000678869.1:n.1805T>C
ENST00000375631.4:c.1217T>C	ENSP00000364782.4:p.Val406Ala
ENST00000480384.1:n.1516T>C
ENST00000491768.5:c.*327T>C	ENSP00000433127.1:n.*327T>C
ENST00000495807.1:n.2525T>C
NM_000434.3:c.1217T>C	NP_000425.1:p.Val406Ala
NM_000434.4:c.1217T>C MANE Select	NP_000425.1:p.Val406Ala