Canonical Allele Identifier: CA3496219

Gene: SPINK5

Linked Data

• ClinVar Variation Id: 959280
• ClinVar RCV Id: RCV001232597
• dbSNP Id: rs778383258
• ExAC: 5:147510860 G / C
• gnomAD v2: 5-147510860-G-C
• gnomAD v4: 5-148131297-G-C
• MyVariant Identifiers: chr5:g.147510860G>C (hg19) ; chr5:g.148131297G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148131297G>C , CM000667.2:g.148131297G>C	GRCh38
NC_000005.9:g.147510860G>C , CM000667.1:g.147510860G>C	GRCh37
NC_000005.8:g.147491053G>C	NCBI36
NG_009633.1:g.72326G>C , LRG_110:g.72326G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256084.8:c.3003G>C MANE Select	ENSP00000256084.7:p.Arg1001Ser
ENST00000256084.7:c.3003G>C	ENSP00000256084.7:p.Arg1001Ser
ENST00000359874.7:c.3093G>C	ENSP00000352936.3:p.Arg1031Ser
NM_001127698.1:c.3093G>C	NP_001121170.1:p.Arg1031Ser
NM_006846.3:c.3003G>C , LRG_110t1:c.3003G>C	NP_006837.2:p.Arg1001Ser
XM_011537550.1:c.3036G>C	XP_011535852.1:p.Arg1012Ser
XM_011537551.1:c.3009G>C	XP_011535853.1:p.Arg1003Ser
XM_011537551.2:c.3009G>C	XP_011535853.1:p.Arg1003Ser
NM_001127698.2:c.3093G>C	NP_001121170.1:p.Arg1031Ser
NM_006846.4:c.3003G>C MANE Select	NP_006837.2:p.Arg1001Ser