Canonical Allele Identifier: CA2738018061
Gene: PVALB HGNC NCBI

Linked Data

dbSNP Id: rs2145945327
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36803662T>C , CM000684.2:g.36803662T>C GRCh38
NC_000022.10:g.37199706T>C , CM000684.1:g.37199706T>C GRCh37
NC_000022.9:g.35529652T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000417718.7:c.305-2744A>G MANE Select ENSP00000400247.2:n.305-2744A>G
ENST00000216200.9:c.305-2744A>G ENSP00000216200.5:n.305-2744A>G
ENST00000404171.1:c.209-2744A>G ENSP00000386089.1:n.209-2744A>G
ENST00000406910.6:c.351-2744A>G
ENST00000417718.6:c.305-2744A>G ENSP00000400247.2:n.305-2744A>G
NM_001315532.1:c.305-2744A>G NP_001302461.1:n.305-2744A>G
NM_002854.2:c.305-2744A>G NP_002845.1:n.305-2744A>G
NM_001315532.2:c.305-2744A>G MANE Select NP_001302461.1:n.305-2744A>G
NM_002854.3:c.305-2744A>G NP_002845.1:n.305-2744A>G
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