Canonical Allele Identifier: CA14940179

Gene: PVALB

Linked Data

• dbSNP Id: rs4820255
• gnomAD v2: 22-37209296-G-C
• gnomAD v3: 22-36813252-G-C
• gnomAD v4: 22-36813252-G-C
• MyVariant Identifiers: chr22:g.37209296G>C (hg19) ; chr22:g.36813252G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36813252G>C , CM000684.2:g.36813252G>C	GRCh38
NC_000022.10:g.37209296G>C , CM000684.1:g.37209296G>C	GRCh37
NC_000022.9:g.35539242G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000417718.7:c.304+394C>G MANE Select	ENSP00000400247.2:n.304+394C>G
ENST00000216200.9:c.304+394C>G	ENSP00000216200.5:n.304+394C>G
ENST00000404171.1:c.208+394C>G	ENSP00000386089.1:n.208+394C>G
ENST00000406910.6:c.300+394C>G
ENST00000417718.6:c.304+394C>G	ENSP00000400247.2:n.304+394C>G
NM_001315532.1:c.304+394C>G	NP_001302461.1:n.304+394C>G
NM_002854.2:c.304+394C>G	NP_002845.1:n.304+394C>G
XM_011530288.1:c.304+394C>G	XP_011528590.1:n.304+394C>G
NM_001315532.2:c.304+394C>G MANE Select	NP_001302461.1:n.304+394C>G
NM_002854.3:c.304+394C>G	NP_002845.1:n.304+394C>G