Canonical Allele Identifier: CA2361651132

Gene: GDF5

Linked Data

• dbSNP Id: rs542926924
• gnomAD v4: 20-35438189-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35438189G>A , CM000682.2:g.35438189G>A	GRCh38
NC_000020.10:g.34025969G>A , CM000682.1:g.34025969G>A	GRCh37
NC_000020.9:g.33489383G>A	NCBI36
NG_008076.2:g.5031C>T
NG_008076.3:g.21558C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374369.8:c.-261C>T MANE Select	ENSP00000363489.3:n.-261C>T
ENST00000374369.7:c.-261C>T	ENSP00000363489.3:n.-261C>T
ENST00000374372.1:c.-241-20C>T	ENSP00000363492.1:n.-241-20C>T
NM_000557.4:c.-261C>T	NP_000548.2:n.-261C>T
XM_011529075.1:c.-241-20C>T	XP_011527377.1:n.-241-20C>T
XM_011529076.1:c.-241-20C>T	XP_011527378.1:n.-241-20C>T
NM_001319138.1:c.-241-20C>T	NP_001306067.1:n.-241-20C>T
NM_000557.5:c.-261C>T MANE Select	NP_000548.2:n.-261C>T
NM_001319138.2:c.-241-20C>T	NP_001306067.1:n.-241-20C>T