Canonical Allele Identifier: CA449808614

Gene: NEU1

Linked Data

• dbSNP Id: rs1179547928
• gnomAD v3: 6-31861422-A-G
• gnomAD v4: 6-31861422-A-G
• MyVariant Identifiers: chr6:g.31829199A>G (hg19) ; chr6:g.31861422A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31861422A>G , CM000668.2:g.31861422A>G	GRCh38
NC_000006.11:g.31829199A>G , CM000668.1:g.31829199A>G	GRCh37
NC_000006.10:g.31937178A>G	NCBI36
NG_008201.1:g.6511T>C
NG_023058.1:g.22625T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375631.5:c.381T>C MANE Select	ENSP00000364782.4:p.Ile127=
ENST00000677054.1:n.1058T>C
ENST00000677512.1:n.489T>C
ENST00000678869.1:n.489T>C
ENST00000375631.4:c.381T>C	ENSP00000364782.4:p.Ile127=
ENST00000480384.1:n.410T>C
ENST00000491768.5:c.381T>C	ENSP00000433127.1:p.Ile127=
ENST00000495807.1:n.949T>C
NM_000434.3:c.381T>C	NP_000425.1:p.Ile127=
NM_000434.4:c.381T>C MANE Select	NP_000425.1:p.Ile127=