Canonical Allele Identifier: CA361644960

Gene: SPINK5

Linked Data

• dbSNP Id: rs1429837681
• gnomAD v4: 5-148118510-G-A
• MyVariant Identifiers: chr5:g.147498073G>A (hg19) ; chr5:g.148118510G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148118510G>A , CM000667.2:g.148118510G>A	GRCh38
NC_000005.9:g.147498073G>A , CM000667.1:g.147498073G>A	GRCh37
NC_000005.8:g.147478266G>A	NCBI36
NG_009633.1:g.59539G>A , LRG_110:g.59539G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256084.8:c.2186G>A MANE Select	ENSP00000256084.7:p.Arg729His
ENST00000256084.7:c.2186G>A	ENSP00000256084.7:p.Arg729His
ENST00000359874.7:c.2186G>A	ENSP00000352936.3:p.Arg729His
ENST00000398454.5:c.2186G>A	ENSP00000381472.1:p.Arg729His
ENST00000507988.5:n.2350G>A
ENST00000508733.5:c.2129G>A	ENSP00000421519.1:p.Arg710His
NM_001127698.1:c.2186G>A	NP_001121170.1:p.Arg729His
NM_001127699.1:c.2186G>A	NP_001121171.1:p.Arg729His
NM_006846.3:c.2186G>A , LRG_110t1:c.2186G>A	NP_006837.2:p.Arg729His
XM_011537550.1:c.2129G>A	XP_011535852.1:p.Arg710His
XM_011537551.1:c.2102G>A	XP_011535853.1:p.Arg701His
XM_011537551.2:c.2102G>A	XP_011535853.1:p.Arg701His
NM_001127698.2:c.2186G>A	NP_001121170.1:p.Arg729His
NM_001127699.2:c.2186G>A	NP_001121171.1:p.Arg729His
NM_006846.4:c.2186G>A MANE Select	NP_006837.2:p.Arg729His