Canonical Allele Identifier: CA408745736

Gene: GDF5

Linked Data

• MyVariant Identifiers: chr20:g.34025686G>C (hg19) ; chr20:g.35437906G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35437906G>C , CM000682.2:g.35437906G>C	GRCh38
NC_000020.10:g.34025686G>C , CM000682.1:g.34025686G>C	GRCh37
NC_000020.9:g.33489100G>C	NCBI36
NG_008076.2:g.5314C>G
NG_008076.3:g.21841C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374369.8:c.23C>G MANE Select	ENSP00000363489.3:p.Thr8Ser
ENST00000374369.7:c.23C>G	ENSP00000363489.3:p.Thr8Ser
ENST00000374372.1:c.23C>G	ENSP00000363492.1:p.Thr8Ser
NM_000557.4:c.23C>G	NP_000548.2:p.Thr8Ser
XM_011529075.1:c.23C>G	XP_011527377.1:p.Thr8Ser
XM_011529076.1:c.23C>G	XP_011527378.1:p.Thr8Ser
NM_001319138.1:c.23C>G	NP_001306067.1:p.Thr8Ser
NM_000557.5:c.23C>G MANE Select	NP_000548.2:p.Thr8Ser
NM_001319138.2:c.23C>G	NP_001306067.1:p.Thr8Ser