Canonical Allele Identifier: CA374897556

Gene: HSPA5

Linked Data

• dbSNP Id: rs1832527530
• gnomAD v4: 9-125238771-C-G
• MyVariant Identifiers: chr9:g.128001050C>G (hg19) ; chr9:g.125238771C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.125238771C>G , CM000671.2:g.125238771C>G	GRCh38
NC_000009.11:g.128001050C>G , CM000671.1:g.128001050C>G	GRCh37
NC_000009.10:g.127040871C>G	NCBI36
NG_027761.1:g.7617G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324460.7:c.1053G>C MANE Select	ENSP00000324173.6:p.Leu351Phe
ENST00000679355.1:n.1408G>C
ENST00000679475.1:n.1637G>C
ENST00000680032.1:c.1053G>C	ENSP00000506285.1:p.Leu351Phe
ENST00000680234.1:n.1309G>C
ENST00000680257.1:n.1309G>C
ENST00000680272.1:c.997-58G>C	ENSP00000506097.1:n.997-58G>C
ENST00000680494.1:n.2477G>C
ENST00000680640.1:n.2004G>C
ENST00000681045.1:n.1933G>C
ENST00000681424.1:n.1408G>C
ENST00000681540.1:n.1309G>C
ENST00000681544.1:n.1384G>C
ENST00000681675.1:n.1933G>C
ENST00000681774.1:n.2275G>C
ENST00000324460.6:c.1053G>C	ENSP00000324173.6:p.Leu351Phe
NM_005347.4:c.1053G>C	NP_005338.1:p.Leu351Phe
NM_005347.5:c.1053G>C MANE Select	NP_005338.1:p.Leu351Phe