Canonical Allele Identifier: CA374897436

Gene: HSPA5

Linked Data

• dbSNP Id: rs1343403693
• gnomAD v3: 9-125238743-G-T
• gnomAD v4: 9-125238743-G-T
• MyVariant Identifiers: chr9:g.128001022G>T (hg19) ; chr9:g.125238743G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.125238743G>T , CM000671.2:g.125238743G>T	GRCh38
NC_000009.11:g.128001022G>T , CM000671.1:g.128001022G>T	GRCh37
NC_000009.10:g.127040843G>T	NCBI36
NG_027761.1:g.7645C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324460.7:c.1081C>A MANE Select	ENSP00000324173.6:p.Leu361Ile
ENST00000679355.1:n.1436C>A
ENST00000679475.1:n.1665C>A
ENST00000680032.1:c.1081C>A	ENSP00000506285.1:p.Leu361Ile
ENST00000680234.1:n.1337C>A
ENST00000680257.1:n.1337C>A
ENST00000680272.1:c.997-30C>A	ENSP00000506097.1:n.997-30C>A
ENST00000680494.1:n.2505C>A
ENST00000680640.1:n.2032C>A
ENST00000681045.1:n.1961C>A
ENST00000681424.1:n.1436C>A
ENST00000681540.1:n.1337C>A
ENST00000681544.1:n.1412C>A
ENST00000681675.1:n.1961C>A
ENST00000681774.1:n.2303C>A
ENST00000324460.6:c.1081C>A	ENSP00000324173.6:p.Leu361Ile
NM_005347.4:c.1081C>A	NP_005338.1:p.Leu361Ile
NM_005347.5:c.1081C>A MANE Select	NP_005338.1:p.Leu361Ile