Canonical Allele Identifier: CA361639205

Gene: SPINK5

Linked Data

• ClinVar Variation Id: 2100537
• ClinVar RCV Id: RCV003764146
• gnomAD v4: 5-148107096-G-C
• MyVariant Identifiers: chr5:g.147486659G>C (hg19) ; chr5:g.148107096G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148107096G>C , CM000667.2:g.148107096G>C	GRCh38
NC_000005.9:g.147486659G>C , CM000667.1:g.147486659G>C	GRCh37
NC_000005.8:g.147466852G>C	NCBI36
NG_009633.1:g.48125G>C , LRG_110:g.48125G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481286.6:n.1148G>C
ENST00000256084.8:c.1539G>C MANE Select	ENSP00000256084.7:p.Glu513Asp
ENST00000256084.7:c.1539G>C	ENSP00000256084.7:p.Glu513Asp
ENST00000359874.7:c.1539G>C	ENSP00000352936.3:p.Glu513Asp
ENST00000398454.5:c.1539G>C	ENSP00000381472.1:p.Glu513Asp
ENST00000507988.5:n.1703G>C
ENST00000508733.5:c.1482G>C	ENSP00000421519.1:p.Glu494Asp
NM_001127698.1:c.1539G>C	NP_001121170.1:p.Glu513Asp
NM_001127699.1:c.1539G>C	NP_001121171.1:p.Glu513Asp
NM_006846.3:c.1539G>C , LRG_110t1:c.1539G>C	NP_006837.2:p.Glu513Asp
XM_011537550.1:c.1482G>C	XP_011535852.1:p.Glu494Asp
XM_011537551.1:c.1455G>C	XP_011535853.1:p.Glu485Asp
XM_011537551.2:c.1455G>C	XP_011535853.1:p.Glu485Asp
NM_001127698.2:c.1539G>C	NP_001121170.1:p.Glu513Asp
NM_001127699.2:c.1539G>C	NP_001121171.1:p.Glu513Asp
NM_006846.4:c.1539G>C MANE Select	NP_006837.2:p.Glu513Asp