Canonical Allele Identifier: CA2361651046

Gene: GDF5

Linked Data

• dbSNP Id: rs2062482613
• gnomAD v4: 20-35438020-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35438023dup , CM000682.2:g.35438023dup	GRCh38
NC_000020.10:g.34025803dup , CM000682.1:g.34025803dup	GRCh37
NC_000020.9:g.33489217dup	NCBI36
NG_008076.2:g.5199dup
NG_008076.3:g.21726dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000374369.8:c.-93dup MANE Select	ENSP00000363489.3:n.-93dup
ENST00000374369.7:c.-93dup	ENSP00000363489.3:n.-93dup
ENST00000374372.1:c.-93dup	ENSP00000363492.1:n.-93dup
NM_000557.4:c.-93dup	NP_000548.2:n.-93dup
XM_011529075.1:c.-93dup	XP_011527377.1:n.-93dup
XM_011529076.1:c.-93dup	XP_011527378.1:n.-93dup
NM_001319138.1:c.-93dup	NP_001306067.1:n.-93dup
NM_000557.5:c.-93dup MANE Select	NP_000548.2:n.-93dup
NM_001319138.2:c.-93dup	NP_001306067.1:n.-93dup