Canonical Allele Identifier: CA446938324
Gene: SPINK5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.147510938C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148131375C>A , CM000667.2:g.148131375C>A GRCh38
NC_000005.9:g.147510938C>A , CM000667.1:g.147510938C>A GRCh37
NC_000005.8:g.147491131C>A NCBI36
NG_009633.1:g.72404C>A , LRG_110:g.72404C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000256084.8:c.3081C>A MANE Select ENSP00000256084.7:p.Leu1027=
ENST00000256084.7:c.3081C>A ENSP00000256084.7:p.Leu1027=
ENST00000359874.7:c.3171C>A ENSP00000352936.3:p.Leu1057=
NM_001127698.1:c.3171C>A NP_001121170.1:p.Leu1057=
NM_006846.3:c.3081C>A , LRG_110t1:c.3081C>A NP_006837.2:p.Leu1027=
XM_011537550.1:c.3114C>A XP_011535852.1:p.Leu1038=
XM_011537551.1:c.3087C>A XP_011535853.1:p.Leu1029=
XM_011537551.2:c.3087C>A XP_011535853.1:p.Leu1029=
NM_001127698.2:c.3171C>A NP_001121170.1:p.Leu1057=
NM_006846.4:c.3081C>A MANE Select NP_006837.2:p.Leu1027=