Canonical Allele Identifier: CA128918910

Gene: SPINK5

Linked Data

• dbSNP Id: rs1000369775
• gnomAD v2: 5-147480764-T-C
• gnomAD v3: 5-148101201-T-C
• gnomAD v4: 5-148101201-T-C
• MyVariant Identifiers: chr5:g.147480764T>C (hg19) ; chr5:g.148101201T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148101201T>C , CM000667.2:g.148101201T>C	GRCh38
NC_000005.9:g.147480764T>C , CM000667.1:g.147480764T>C	GRCh37
NC_000005.8:g.147460957T>C	NCBI36
NG_009633.1:g.42230T>C , LRG_110:g.42230T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481286.6:n.830-154T>C
ENST00000256084.8:c.1221-154T>C MANE Select	ENSP00000256084.7:n.1221-154T>C
ENST00000256084.7:c.1221-154T>C	ENSP00000256084.7:n.1221-154T>C
ENST00000359874.7:c.1221-154T>C	ENSP00000352936.3:n.1221-154T>C
ENST00000398454.5:c.1221-154T>C	ENSP00000381472.1:n.1221-154T>C
ENST00000476608.1:n.737-154T>C
ENST00000507988.5:n.1385-154T>C
ENST00000508733.5:c.1164-154T>C	ENSP00000421519.1:n.1164-154T>C
NM_001127698.1:c.1221-154T>C	NP_001121170.1:n.1221-154T>C
NM_001127699.1:c.1221-154T>C	NP_001121171.1:n.1221-154T>C
NM_006846.3:c.1221-154T>C , LRG_110t1:c.1221-154T>C	NP_006837.2:n.1221-154T>C
XM_011537550.1:c.1164-154T>C	XP_011535852.1:n.1164-154T>C
XM_011537551.1:c.1137-154T>C	XP_011535853.1:n.1137-154T>C
XM_011537551.2:c.1137-154T>C	XP_011535853.1:n.1137-154T>C
NM_001127698.2:c.1221-154T>C	NP_001121170.1:n.1221-154T>C
NM_001127699.2:c.1221-154T>C	NP_001121171.1:n.1221-154T>C
NM_006846.4:c.1221-154T>C MANE Select	NP_006837.2:n.1221-154T>C