Canonical Allele Identifier: CA408745788

Gene: GDF5

Linked Data

• MyVariant Identifiers: chr20:g.34025702G>A (hg19) ; chr20:g.35437922G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35437922G>A , CM000682.2:g.35437922G>A	GRCh38
NC_000020.10:g.34025702G>A , CM000682.1:g.34025702G>A	GRCh37
NC_000020.9:g.33489116G>A	NCBI36
NG_008076.2:g.5298C>T
NG_008076.3:g.21825C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374369.8:c.7C>T MANE Select	ENSP00000363489.3:p.Leu3Phe
ENST00000374369.7:c.7C>T	ENSP00000363489.3:p.Leu3Phe
ENST00000374372.1:c.7C>T	ENSP00000363492.1:p.Leu3Phe
NM_000557.4:c.7C>T	NP_000548.2:p.Leu3Phe
XM_011529075.1:c.7C>T	XP_011527377.1:p.Leu3Phe
XM_011529076.1:c.7C>T	XP_011527378.1:p.Leu3Phe
NM_001319138.1:c.7C>T	NP_001306067.1:p.Leu3Phe
NM_000557.5:c.7C>T MANE Select	NP_000548.2:p.Leu3Phe
NM_001319138.2:c.7C>T	NP_001306067.1:p.Leu3Phe