Canonical Allele Identifier: CA314131820

Gene: GDF5

Linked Data

• dbSNP Id: rs1021665758
• gnomAD v2: 20-34026070-C-T
• gnomAD v3: 20-35438290-C-T
• gnomAD v4: 20-35438290-C-T
• MyVariant Identifiers: chr20:g.34026070C>T (hg19) ; chr20:g.35438290C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35438290C>T , CM000682.2:g.35438290C>T	GRCh38
NC_000020.10:g.34026070C>T , CM000682.1:g.34026070C>T	GRCh37
NC_000020.9:g.33489484C>T	NCBI36
NG_008076.2:g.4930G>A
NG_008076.3:g.21457G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374372.1:c.-241-121G>A	ENSP00000363492.1:n.-241-121G>A
XM_011529075.1:c.-241-121G>A	XP_011527377.1:n.-241-121G>A
XM_011529076.1:c.-241-121G>A	XP_011527378.1:n.-241-121G>A
NM_001319138.1:c.-241-121G>A	NP_001306067.1:n.-241-121G>A
NM_001319138.2:c.-241-121G>A	NP_001306067.1:n.-241-121G>A