Canonical Allele Identifier: CA3496209

Gene: SPINK5

Linked Data

• ClinVar Variation Id: 1663313
• ClinVar RCV Id: RCV003774077
• dbSNP Id: rs762139890
• ExAC: 5:147510804 T / C
• gnomAD v2: 5-147510804-T-C
• gnomAD v3: 5-148131241-T-C
• gnomAD v4: 5-148131241-T-C
• MyVariant Identifiers: chr5:g.147510804T>C (hg19) ; chr5:g.148131241T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148131241T>C , CM000667.2:g.148131241T>C	GRCh38
NC_000005.9:g.147510804T>C , CM000667.1:g.147510804T>C	GRCh37
NC_000005.8:g.147490997T>C	NCBI36
NG_009633.1:g.72270T>C , LRG_110:g.72270T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256084.8:c.2965-18T>C MANE Select	ENSP00000256084.7:n.2965-18T>C
ENST00000256084.7:c.2965-18T>C	ENSP00000256084.7:n.2965-18T>C
ENST00000359874.7:c.3055-18T>C	ENSP00000352936.3:n.3055-18T>C
NM_001127698.1:c.3055-18T>C	NP_001121170.1:n.3055-18T>C
NM_006846.3:c.2965-18T>C , LRG_110t1:c.2965-18T>C	NP_006837.2:n.2965-18T>C
XM_011537550.1:c.2998-18T>C	XP_011535852.1:n.2998-18T>C
XM_011537551.1:c.2971-18T>C	XP_011535853.1:n.2971-18T>C
XM_011537551.2:c.2971-18T>C	XP_011535853.1:n.2971-18T>C
NM_001127698.2:c.3055-18T>C	NP_001121170.1:n.3055-18T>C
NM_006846.4:c.2965-18T>C MANE Select	NP_006837.2:n.2965-18T>C