Canonical Allele Identifier: CA361651977

Gene: SPINK5

Linked Data

• dbSNP Id: rs192473445
• gnomAD v4: 5-148131283-C-G
• MyVariant Identifiers: chr5:g.147510846C>G (hg19) ; chr5:g.148131283C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148131283C>G , CM000667.2:g.148131283C>G	GRCh38
NC_000005.9:g.147510846C>G , CM000667.1:g.147510846C>G	GRCh37
NC_000005.8:g.147491039C>G	NCBI36
NG_009633.1:g.72312C>G , LRG_110:g.72312C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256084.8:c.2989C>G MANE Select	ENSP00000256084.7:p.Arg997Gly
ENST00000256084.7:c.2989C>G	ENSP00000256084.7:p.Arg997Gly
ENST00000359874.7:c.3079C>G	ENSP00000352936.3:p.Arg1027Gly
NM_001127698.1:c.3079C>G	NP_001121170.1:p.Arg1027Gly
NM_006846.3:c.2989C>G , LRG_110t1:c.2989C>G	NP_006837.2:p.Arg997Gly
XM_011537550.1:c.3022C>G	XP_011535852.1:p.Arg1008Gly
XM_011537551.1:c.2995C>G	XP_011535853.1:p.Arg999Gly
XM_011537551.2:c.2995C>G	XP_011535853.1:p.Arg999Gly
NM_001127698.2:c.3079C>G	NP_001121170.1:p.Arg1027Gly
NM_006846.4:c.2989C>G MANE Select	NP_006837.2:p.Arg997Gly