Canonical Allele Identifier: CA3977136

Gene: NUS1

Linked Data

• ClinVar Variation Id: 2428324
• ClinVar RCV Id: RCV003117295
• dbSNP Id: rs773851832
• ExAC: 6:118015185 T / C
• gnomAD v2: 6-118015185-T-C
• gnomAD v3: 6-117694022-T-C
• gnomAD v4: 6-117694022-T-C
• MyVariant Identifiers: chr6:g.118015185T>C (hg19) ; chr6:g.117694022T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.117694022T>C , CM000668.2:g.117694022T>C	GRCh38
NC_000006.11:g.118015185T>C , CM000668.1:g.118015185T>C	GRCh37
NC_000006.10:g.118121878T>C	NCBI36
NG_054913.1:g.23569T>C
NG_054913.2:g.23569T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368494.4:c.542-9T>C MANE Select	ENSP00000357480.3:n.542-9T>C
ENST00000368494.3:c.542-9T>C	ENSP00000357480.3:n.542-9T>C
NM_138459.3:c.542-9T>C	NP_612468.1:n.542-9T>C
NM_138459.4:c.542-9T>C	NP_612468.1:n.542-9T>C
NM_138459.5:c.542-9T>C MANE Select	NP_612468.1:n.542-9T>C