Canonical Allele Identifier: CA2652618086

Gene: GDF5

Linked Data

• gnomAD v4: 20-35438202-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35438202C>A , CM000682.2:g.35438202C>A	GRCh38
NC_000020.10:g.34025982C>A , CM000682.1:g.34025982C>A	GRCh37
NC_000020.9:g.33489396C>A	NCBI36
NG_008076.2:g.5018G>T
NG_008076.3:g.21545G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374369.8:c.-274G>T MANE Select	ENSP00000363489.3:n.-274G>T
ENST00000374369.7:c.-274G>T	ENSP00000363489.3:n.-274G>T
ENST00000374372.1:c.-241-33G>T	ENSP00000363492.1:n.-241-33G>T
XM_011529075.1:c.-241-33G>T	XP_011527377.1:n.-241-33G>T
XM_011529076.1:c.-241-33G>T	XP_011527378.1:n.-241-33G>T
NM_001319138.1:c.-241-33G>T	NP_001306067.1:n.-241-33G>T
NM_000557.5:c.-274G>T MANE Select	NP_000548.2:n.-274G>T
NM_001319138.2:c.-241-33G>T	NP_001306067.1:n.-241-33G>T