Canonical Allele Identifier: CA1025506709

Gene: PVALB

Linked Data

• dbSNP Id: rs1939075628
• gnomAD v3: 22-36813368-G-A
• gnomAD v4: 22-36813368-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36813368G>A , CM000684.2:g.36813368G>A	GRCh38
NC_000022.10:g.37209412G>A , CM000684.1:g.37209412G>A	GRCh37
NC_000022.9:g.35539358G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000417718.7:c.304+278C>T MANE Select	ENSP00000400247.2:n.304+278C>T
ENST00000216200.9:c.304+278C>T	ENSP00000216200.5:n.304+278C>T
ENST00000404171.1:c.208+278C>T	ENSP00000386089.1:n.208+278C>T
ENST00000406910.6:c.300+278C>T
ENST00000417718.6:c.304+278C>T	ENSP00000400247.2:n.304+278C>T
NM_001315532.1:c.304+278C>T	NP_001302461.1:n.304+278C>T
NM_002854.2:c.304+278C>T	NP_002845.1:n.304+278C>T
XM_011530288.1:c.304+278C>T	XP_011528590.1:n.304+278C>T
NM_001315532.2:c.304+278C>T MANE Select	NP_001302461.1:n.304+278C>T
NM_002854.3:c.304+278C>T	NP_002845.1:n.304+278C>T