Canonical Allele Identifier: CA314131819

Gene: GDF5

Linked Data

• dbSNP Id: rs750927783
• gnomAD v2: 20-34026064-G-T
• gnomAD v3: 20-35438284-G-T
• gnomAD v4: 20-35438284-G-T
• MyVariant Identifiers: chr20:g.34026064G>T (hg19) ; chr20:g.35438284G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35438284G>T , CM000682.2:g.35438284G>T	GRCh38
NC_000020.10:g.34026064G>T , CM000682.1:g.34026064G>T	GRCh37
NC_000020.9:g.33489478G>T	NCBI36
NG_008076.2:g.4936C>A
NG_008076.3:g.21463C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374372.1:c.-241-115C>A	ENSP00000363492.1:n.-241-115C>A
XM_011529075.1:c.-241-115C>A	XP_011527377.1:n.-241-115C>A
XM_011529076.1:c.-241-115C>A	XP_011527378.1:n.-241-115C>A
NM_001319138.1:c.-241-115C>A	NP_001306067.1:n.-241-115C>A
NM_001319138.2:c.-241-115C>A	NP_001306067.1:n.-241-115C>A