Canonical Allele Identifier: CA447017902
Gene: SPINK1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.147211102G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.147831539G>C , CM000667.2:g.147831539G>C GRCh38
NC_000005.9:g.147211102G>C , CM000667.1:g.147211102G>C GRCh37
NC_000005.8:g.147191295G>C NCBI36
NG_008356.2:g.12693C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296695.10:c.39C>G MANE Select ENSP00000296695.5:p.Ala13=
ENST00000296695.9:c.39C>G ENSP00000296695.5:p.Ala13=
ENST00000510027.2:c.39C>G ENSP00000427376.1:p.Ala13=
NM_003122.4:c.39C>G NP_003113.2:p.Ala13=
NM_001354966.1:c.39C>G NP_001341895.1:p.Ala13=
NM_001354966.2:c.39C>G NP_001341895.1:p.Ala13=
NM_001379610.1:c.39C>G MANE Select NP_001366539.1:p.Ala13=
NM_003122.5:c.39C>G NP_003113.2:p.Ala13=