Canonical Allele Identifier: CA2656461023
Gene: PVALB HGNC NCBI

Linked Data

gnomAD v4: 22-36813372-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36813372A>G , CM000684.2:g.36813372A>G GRCh38
NC_000022.10:g.37209416A>G , CM000684.1:g.37209416A>G GRCh37
NC_000022.9:g.35539362A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000417718.7:c.304+274T>C MANE Select ENSP00000400247.2:n.304+274T>C
ENST00000216200.9:c.304+274T>C ENSP00000216200.5:n.304+274T>C
ENST00000404171.1:c.208+274T>C ENSP00000386089.1:n.208+274T>C
ENST00000406910.6:c.300+274T>C
ENST00000417718.6:c.304+274T>C ENSP00000400247.2:n.304+274T>C
NM_001315532.1:c.304+274T>C NP_001302461.1:n.304+274T>C
NM_002854.2:c.304+274T>C NP_002845.1:n.304+274T>C
XM_011530288.1:c.304+274T>C XP_011528590.1:n.304+274T>C
NM_001315532.2:c.304+274T>C MANE Select NP_001302461.1:n.304+274T>C
NM_002854.3:c.304+274T>C NP_002845.1:n.304+274T>C
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