Canonical Allele Identifier: CA563526209

Gene: SPINK5

Linked Data

• dbSNP Id: rs1448181964
• gnomAD v2: 5-147510958-T-G
• gnomAD v4: 5-148131395-T-G
• MyVariant Identifiers: chr5:g.147510958T>G (hg19) ; chr5:g.148131395T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148131395T>G , CM000667.2:g.148131395T>G	GRCh38
NC_000005.9:g.147510958T>G , CM000667.1:g.147510958T>G	GRCh37
NC_000005.8:g.147491151T>G	NCBI36
NG_009633.1:g.72424T>G , LRG_110:g.72424T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256084.8:c.3095+6T>G MANE Select	ENSP00000256084.7:n.3095+6T>G
ENST00000256084.7:c.3095+6T>G	ENSP00000256084.7:n.3095+6T>G
ENST00000359874.7:c.3185+6T>G	ENSP00000352936.3:n.3185+6T>G
NM_001127698.1:c.3185+6T>G	NP_001121170.1:n.3185+6T>G
NM_006846.3:c.3095+6T>G , LRG_110t1:c.3095+6T>G	NP_006837.2:n.3095+6T>G
XM_011537550.1:c.3128+6T>G	XP_011535852.1:n.3128+6T>G
XM_011537551.1:c.3101+6T>G	XP_011535853.1:n.3101+6T>G
XM_011537551.2:c.3101+6T>G	XP_011535853.1:n.3101+6T>G
NM_001127698.2:c.3185+6T>G	NP_001121170.1:n.3185+6T>G
NM_006846.4:c.3095+6T>G MANE Select	NP_006837.2:n.3095+6T>G