Canonical Allele Identifier: CA3496216

Gene: SPINK5

Linked Data

• dbSNP Id: rs777313402
• ExAC: 5:147510847 G / A
• gnomAD v2: 5-147510847-G-A
• gnomAD v4: 5-148131284-G-A
• MyVariant Identifiers: chr5:g.147510847G>A (hg19) ; chr5:g.148131284G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148131284G>A , CM000667.2:g.148131284G>A	GRCh38
NC_000005.9:g.147510847G>A , CM000667.1:g.147510847G>A	GRCh37
NC_000005.8:g.147491040G>A	NCBI36
NG_009633.1:g.72313G>A , LRG_110:g.72313G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256084.8:c.2990G>A MANE Select	ENSP00000256084.7:p.Arg997Gln
ENST00000256084.7:c.2990G>A	ENSP00000256084.7:p.Arg997Gln
ENST00000359874.7:c.3080G>A	ENSP00000352936.3:p.Arg1027Gln
NM_001127698.1:c.3080G>A	NP_001121170.1:p.Arg1027Gln
NM_006846.3:c.2990G>A , LRG_110t1:c.2990G>A	NP_006837.2:p.Arg997Gln
XM_011537550.1:c.3023G>A	XP_011535852.1:p.Arg1008Gln
XM_011537551.1:c.2996G>A	XP_011535853.1:p.Arg999Gln
XM_011537551.2:c.2996G>A	XP_011535853.1:p.Arg999Gln
NM_001127698.2:c.3080G>A	NP_001121170.1:p.Arg1027Gln
NM_006846.4:c.2990G>A MANE Select	NP_006837.2:p.Arg997Gln