Canonical Allele Identifier: CA361639344

Gene: SPINK5

Linked Data

• ClinVar Variation Id: 835193
• ClinVar RCV Id: RCV003762970
• dbSNP Id: rs758158334
• MyVariant Identifiers: chr5:g.147486722T>A (hg19) ; chr5:g.148107159T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148107159T>A , CM000667.2:g.148107159T>A	GRCh38
NC_000005.9:g.147486722T>A , CM000667.1:g.147486722T>A	GRCh37
NC_000005.8:g.147466915T>A	NCBI36
NG_009633.1:g.48188T>A , LRG_110:g.48188T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481286.6:n.1211T>A
ENST00000256084.8:c.1602T>A MANE Select	ENSP00000256084.7:p.Ser534Arg
ENST00000256084.7:c.1602T>A	ENSP00000256084.7:p.Ser534Arg
ENST00000359874.7:c.1602T>A	ENSP00000352936.3:p.Ser534Arg
ENST00000398454.5:c.1602T>A	ENSP00000381472.1:p.Ser534Arg
ENST00000507988.5:n.1766T>A
ENST00000508733.5:c.1545T>A	ENSP00000421519.1:p.Ser515Arg
NM_001127698.1:c.1602T>A	NP_001121170.1:p.Ser534Arg
NM_001127699.1:c.1602T>A	NP_001121171.1:p.Ser534Arg
NM_006846.3:c.1602T>A , LRG_110t1:c.1602T>A	NP_006837.2:p.Ser534Arg
XM_011537550.1:c.1545T>A	XP_011535852.1:p.Ser515Arg
XM_011537551.1:c.1518T>A	XP_011535853.1:p.Ser506Arg
XM_011537551.2:c.1518T>A	XP_011535853.1:p.Ser506Arg
NM_001127698.2:c.1602T>A	NP_001121170.1:p.Ser534Arg
NM_001127699.2:c.1602T>A	NP_001121171.1:p.Ser534Arg
NM_006846.4:c.1602T>A MANE Select	NP_006837.2:p.Ser534Arg