Canonical Allele Identifier: CA3495373

Gene: SPINK5

Linked Data

• ClinVar Variation Id: 389608
• ClinVar RCV Id: RCV000429529 ; RCV001051526
• dbSNP Id: rs375727921
• ExAC: 5:147475389 G / A
• gnomAD v2: 5-147475389-G-A
• gnomAD v3: 5-148095826-G-A
• gnomAD v4: 5-148095826-G-A
• MyVariant Identifiers: chr5:g.147475389G>A (hg19) ; chr5:g.148095826G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148095826G>A , CM000667.2:g.148095826G>A	GRCh38
NC_000005.9:g.147475389G>A , CM000667.1:g.147475389G>A	GRCh37
NC_000005.8:g.147455582G>A	NCBI36
NG_009633.1:g.36855G>A , LRG_110:g.36855G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481286.6:n.412G>A
ENST00000698105.1:n.673G>A
ENST00000256084.8:c.803G>A MANE Select	ENSP00000256084.7:p.Arg268His
ENST00000256084.7:c.803G>A	ENSP00000256084.7:p.Arg268His
ENST00000359874.7:c.803G>A	ENSP00000352936.3:p.Arg268His
ENST00000398454.5:c.803G>A	ENSP00000381472.1:p.Arg268His
ENST00000476608.1:n.319G>A
ENST00000476697.7:c.*328G>A	ENSP00000427943.1:n.*328G>A
ENST00000481286.5:n.249G>A
ENST00000507988.5:n.967G>A
ENST00000508733.5:c.746G>A	ENSP00000421519.1:p.Arg249His
NM_001127698.1:c.803G>A	NP_001121170.1:p.Arg268His
NM_001127699.1:c.803G>A	NP_001121171.1:p.Arg268His
NM_006846.3:c.803G>A , LRG_110t1:c.803G>A	NP_006837.2:p.Arg268His
XM_011537550.1:c.746G>A	XP_011535852.1:p.Arg249His
XM_011537551.1:c.719G>A	XP_011535853.1:p.Arg240His
XM_011537551.2:c.719G>A	XP_011535853.1:p.Arg240His
NM_001127698.2:c.803G>A	NP_001121170.1:p.Arg268His
NM_001127699.2:c.803G>A	NP_001121171.1:p.Arg268His
NM_006846.4:c.803G>A MANE Select	NP_006837.2:p.Arg268His