Canonical Allele Identifier: CA363494717

Gene: NEU1

Linked Data

• MyVariant Identifiers: chr6:g.31829139C>G (hg19) ; chr6:g.31861362C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31861362C>G , CM000668.2:g.31861362C>G	GRCh38
NC_000006.11:g.31829139C>G , CM000668.1:g.31829139C>G	GRCh37
NC_000006.10:g.31937118C>G	NCBI36
NG_008201.1:g.6571G>C
NG_023058.1:g.22685G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375631.5:c.441G>C MANE Select	ENSP00000364782.4:p.Glu147Asp
ENST00000677054.1:n.1118G>C
ENST00000677512.1:n.549G>C
ENST00000678869.1:n.549G>C
ENST00000375631.4:c.441G>C	ENSP00000364782.4:p.Glu147Asp
ENST00000480384.1:n.470G>C
ENST00000491768.5:c.441G>C	ENSP00000433127.1:p.Glu147Asp
ENST00000495807.1:n.1009G>C
NM_000434.3:c.441G>C	NP_000425.1:p.Glu147Asp
NM_000434.4:c.441G>C MANE Select	NP_000425.1:p.Glu147Asp