Canonical Allele Identifier: CA2656461212

Gene: PVALB

Linked Data

• gnomAD v4: 22-36813498-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36813498A>G , CM000684.2:g.36813498A>G	GRCh38
NC_000022.10:g.37209542A>G , CM000684.1:g.37209542A>G	GRCh37
NC_000022.9:g.35539488A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000417718.7:c.304+148T>C MANE Select	ENSP00000400247.2:n.304+148T>C
ENST00000216200.9:c.304+148T>C	ENSP00000216200.5:n.304+148T>C
ENST00000404171.1:c.208+148T>C	ENSP00000386089.1:n.208+148T>C
ENST00000406910.6:c.300+148T>C
ENST00000417718.6:c.304+148T>C	ENSP00000400247.2:n.304+148T>C
ENST00000467935.1:n.482T>C
NM_001315532.1:c.304+148T>C	NP_001302461.1:n.304+148T>C
NM_002854.2:c.304+148T>C	NP_002845.1:n.304+148T>C
XM_011530288.1:c.304+148T>C	XP_011528590.1:n.304+148T>C
NM_001315532.2:c.304+148T>C MANE Select	NP_001302461.1:n.304+148T>C
NM_002854.3:c.304+148T>C	NP_002845.1:n.304+148T>C