Canonical Allele Identifier: CA3494846
Gene: SPINK1 HGNC NCBI

Linked Data

dbSNP Id: rs181484530
ExAC: 5:147211182 G / T
gnomAD v2: 5-147211182-G-T
gnomAD v3: 5-147831619-G-T
gnomAD v4: 5-147831619-G-T
MyVariant Identifiers: chr5:g.147211182G>T (hg19) chr5:g.147831619G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.147831619G>T , CM000667.2:g.147831619G>T GRCh38
NC_000005.9:g.147211182G>T , CM000667.1:g.147211182G>T GRCh37
NC_000005.8:g.147191375G>T NCBI36
NG_008356.2:g.12613C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296695.10:c.-42C>A MANE Select ENSP00000296695.5:n.-42C>A
ENST00000296695.9:c.-42C>A ENSP00000296695.5:n.-42C>A
ENST00000510027.2:c.-42C>A ENSP00000427376.1:n.-42C>A
NM_003122.4:c.-42C>A NP_003113.2:n.-42C>A
NM_001354966.1:c.-42C>A NP_001341895.1:n.-42C>A
NM_001354966.2:c.-42C>A NP_001341895.1:n.-42C>A
NM_001379610.1:c.-42C>A MANE Select NP_001366539.1:n.-42C>A
NM_003122.5:c.-42C>A NP_003113.2:n.-42C>A
Search 100 bp 5'
Search 100 bp 3'