Canonical Allele Identifier: CA399766131

Gene: GRN

Linked Data

• gnomAD v4: 17-44351736-T-G
• MyVariant Identifiers: chr17:g.42429104T>G (hg19) ; chr17:g.44351736T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44351736T>G , CM000679.2:g.44351736T>G	GRCh38
NC_000017.10:g.42429104T>G , CM000679.1:g.42429104T>G	GRCh37
NC_000017.9:g.39784630T>G	NCBI36
NG_007886.1:g.11614T>G , LRG_661:g.11614T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.1120T>G MANE Select	ENSP00000053867.2:p.Ser374Ala
ENST00000639447.1:c.1120T>G	ENSP00000492014.1:p.Ser374Ala
ENST00000053867.7:c.1120T>G	ENSP00000053867.2:p.Ser374Ala
ENST00000586443.1:c.561T>G
ENST00000589265.5:c.649T>G	ENSP00000467616.1:p.Ser217Ala
ENST00000589923.1:n.378T>G
NM_002087.3:c.1120T>G	NP_002078.1:p.Ser374Ala
XM_005257253.1:c.1120T>G	XP_005257310.1:p.Ser374Ala
XM_024450730.1:c.1120T>G	XP_024306498.1:p.Ser374Ala
NM_002087.4:c.1120T>G MANE Select	NP_002078.1:p.Ser374Ala