Canonical Allele Identifier: CA399964061
Gene: NOG HGNC NCBI

Linked Data

gnomAD v4: 17-56594236-C-T
MyVariant Identifiers: chr17:g.54671597C>T (hg19) chr17:g.56594236C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56594236C>T , CM000679.2:g.56594236C>T GRCh38
NC_000017.10:g.54671597C>T , CM000679.1:g.54671597C>T GRCh37
NC_000017.9:g.52026596C>T NCBI36
NG_011958.1:g.5538C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000332822.6:c.13C>T MANE Select ENSP00000328181.4:p.Pro5Ser
ENST00000332822.4:c.13C>T ENSP00000328181.4:p.Pro5Ser
NM_005450.4:c.13C>T NP_005441.1:p.Pro5Ser
NM_005450.6:c.13C>T MANE Select NP_005441.1:p.Pro5Ser
Search 100 bp 5'
Search 100 bp 3'