Canonical Allele Identifier: CA314131817

Gene: GDF5

Linked Data

• dbSNP Id: rs902453940
• gnomAD v3: 20-35438269-T-G
• gnomAD v4: 20-35438269-T-G
• MyVariant Identifiers: chr20:g.34026049T>G (hg19) ; chr20:g.35438269T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35438269T>G , CM000682.2:g.35438269T>G	GRCh38
NC_000020.10:g.34026049T>G , CM000682.1:g.34026049T>G	GRCh37
NC_000020.9:g.33489463T>G	NCBI36
NG_008076.2:g.4951A>C
NG_008076.3:g.21478A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374372.1:c.-241-100A>C	ENSP00000363492.1:n.-241-100A>C
XM_011529075.1:c.-241-100A>C	XP_011527377.1:n.-241-100A>C
XM_011529076.1:c.-241-100A>C	XP_011527378.1:n.-241-100A>C
NM_001319138.1:c.-241-100A>C	NP_001306067.1:n.-241-100A>C
NM_001319138.2:c.-241-100A>C	NP_001306067.1:n.-241-100A>C