Canonical Allele Identifier: CA314131781

Gene: GDF5

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35437976G>A , CM000682.2:g.35437976G>A	GRCh38
NG_008076.2:g.5244C>T
NG_008076.3:g.21771C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000557.5:c.-48C>T MANE Select	NP_000548.2:n.-48C>T
ENST00000374369.8:c.-48C>T MANE Select	ENSP00000363489.3:n.-48C>T
NM_000557.4:c.-48C>T	NP_000548.2:n.-48C>T
NM_001319138.1:c.-48C>T	NP_001306067.1:n.-48C>T
NM_001319138.2:c.-48C>T	NP_001306067.1:n.-48C>T
ENST00000374369.7:c.-48C>T	ENSP00000363489.3:n.-48C>T
ENST00000374372.1:c.-48C>T	ENSP00000363492.1:n.-48C>T
XM_011529075.1:c.-48C>T	XP_011527377.1:n.-48C>T
XM_011529076.1:c.-48C>T	XP_011527378.1:n.-48C>T