Canonical Allele Identifier: CA323990147

Gene: PVALB

Linked Data

• dbSNP Id: rs370051267
• gnomAD v2: 22-37199765-T-G
• gnomAD v3: 22-36803721-T-G
• gnomAD v4: 22-36803721-T-G
• MyVariant Identifiers: chr22:g.37199765T>G (hg19) ; chr22:g.36803721T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36803721T>G , CM000684.2:g.36803721T>G	GRCh38
NC_000022.10:g.37199765T>G , CM000684.1:g.37199765T>G	GRCh37
NC_000022.9:g.35529711T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000417718.7:c.305-2803A>C MANE Select	ENSP00000400247.2:n.305-2803A>C
ENST00000216200.9:c.305-2803A>C	ENSP00000216200.5:n.305-2803A>C
ENST00000404171.1:c.209-2803A>C	ENSP00000386089.1:n.209-2803A>C
ENST00000406910.6:c.351-2803A>C
ENST00000417718.6:c.305-2803A>C	ENSP00000400247.2:n.305-2803A>C
NM_001315532.1:c.305-2803A>C	NP_001302461.1:n.305-2803A>C
NM_002854.2:c.305-2803A>C	NP_002845.1:n.305-2803A>C
NM_001315532.2:c.305-2803A>C MANE Select	NP_001302461.1:n.305-2803A>C
NM_002854.3:c.305-2803A>C	NP_002845.1:n.305-2803A>C