Canonical Allele Identifier: CA3496134

Gene: SPINK5

Linked Data

• dbSNP Id: rs760194387
• ExAC: 5:147505297 T / A
• gnomAD v2: 5-147505297-T-A
• gnomAD v4: 5-148125734-T-A
• MyVariant Identifiers: chr5:g.147505297T>A (hg19) ; chr5:g.148125734T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148125734T>A , CM000667.2:g.148125734T>A	GRCh38
NC_000005.9:g.147505297T>A , CM000667.1:g.147505297T>A	GRCh37
NC_000005.8:g.147485490T>A	NCBI36
NG_009633.1:g.66763T>A , LRG_110:g.66763T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000256084.8:c.2751T>A MANE Select	ENSP00000256084.7:p.Ser917Arg
ENST00000256084.7:c.2751T>A	ENSP00000256084.7:p.Ser917Arg
ENST00000359874.7:c.2841T>A	ENSP00000352936.3:p.Ser947Arg
NM_001127698.1:c.2841T>A	NP_001121170.1:p.Ser947Arg
NM_006846.3:c.2751T>A , LRG_110t1:c.2751T>A	NP_006837.2:p.Ser917Arg
XM_011537550.1:c.2784T>A	XP_011535852.1:p.Ser928Arg
XM_011537551.1:c.2757T>A	XP_011535853.1:p.Ser919Arg
XM_011537551.2:c.2757T>A	XP_011535853.1:p.Ser919Arg
NM_001127698.2:c.2841T>A	NP_001121170.1:p.Ser947Arg
NM_006846.4:c.2751T>A MANE Select	NP_006837.2:p.Ser917Arg