Canonical Allele Identifier: CA361652234

Gene: SPINK5

Linked Data

• dbSNP Id: rs1754568453
• gnomAD v3: 5-148131372-G-A
• gnomAD v4: 5-148131372-G-A
• MyVariant Identifiers: chr5:g.147510935G>A (hg19) ; chr5:g.148131372G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148131372G>A , CM000667.2:g.148131372G>A	GRCh38
NC_000005.9:g.147510935G>A , CM000667.1:g.147510935G>A	GRCh37
NC_000005.8:g.147491128G>A	NCBI36
NG_009633.1:g.72401G>A , LRG_110:g.72401G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256084.8:c.3078G>A MANE Select	ENSP00000256084.7:p.Met1026Ile
ENST00000256084.7:c.3078G>A	ENSP00000256084.7:p.Met1026Ile
ENST00000359874.7:c.3168G>A	ENSP00000352936.3:p.Met1056Ile
NM_001127698.1:c.3168G>A	NP_001121170.1:p.Met1056Ile
NM_006846.3:c.3078G>A , LRG_110t1:c.3078G>A	NP_006837.2:p.Met1026Ile
XM_011537550.1:c.3111G>A	XP_011535852.1:p.Met1037Ile
XM_011537551.1:c.3084G>A	XP_011535853.1:p.Met1028Ile
XM_011537551.2:c.3084G>A	XP_011535853.1:p.Met1028Ile
NM_001127698.2:c.3168G>A	NP_001121170.1:p.Met1056Ile
NM_006846.4:c.3078G>A MANE Select	NP_006837.2:p.Met1026Ile