Canonical Allele Identifier: CA2656461048

Gene: PVALB

Linked Data

• gnomAD v4: 22-36813383-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36813383A>C , CM000684.2:g.36813383A>C	GRCh38
NC_000022.10:g.37209427A>C , CM000684.1:g.37209427A>C	GRCh37
NC_000022.9:g.35539373A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000417718.7:c.304+263T>G MANE Select	ENSP00000400247.2:n.304+263T>G
ENST00000216200.9:c.304+263T>G	ENSP00000216200.5:n.304+263T>G
ENST00000404171.1:c.208+263T>G	ENSP00000386089.1:n.208+263T>G
ENST00000406910.6:c.300+263T>G
ENST00000417718.6:c.304+263T>G	ENSP00000400247.2:n.304+263T>G
NM_001315532.1:c.304+263T>G	NP_001302461.1:n.304+263T>G
NM_002854.2:c.304+263T>G	NP_002845.1:n.304+263T>G
XM_011530288.1:c.304+263T>G	XP_011528590.1:n.304+263T>G
NM_001315532.2:c.304+263T>G MANE Select	NP_001302461.1:n.304+263T>G
NM_002854.3:c.304+263T>G	NP_002845.1:n.304+263T>G