Canonical Allele Identifier: CA408745805

Gene: GDF5

Linked Data

• dbSNP Id: rs1279365396
• gnomAD v2: 20-34025706-C-T
• gnomAD v4: 20-35437926-C-T
• MyVariant Identifiers: chr20:g.34025706C>T (hg19) ; chr20:g.35437926C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35437926C>T , CM000682.2:g.35437926C>T	GRCh38
NC_000020.10:g.34025706C>T , CM000682.1:g.34025706C>T	GRCh37
NC_000020.9:g.33489120C>T	NCBI36
NG_008076.2:g.5294G>A
NG_008076.3:g.21821G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374369.8:c.3G>A MANE Select	ENSP00000363489.3:p.Met1Ile
ENST00000374369.7:c.3G>A	ENSP00000363489.3:p.Met1Ile
ENST00000374372.1:c.3G>A	ENSP00000363492.1:p.Met1Ile
NM_000557.4:c.3G>A	NP_000548.2:p.Met1Ile
XM_011529075.1:c.3G>A	XP_011527377.1:p.Met1Ile
XM_011529076.1:c.3G>A	XP_011527378.1:p.Met1Ile
NM_001319138.1:c.3G>A	NP_001306067.1:p.Met1Ile
NM_000557.5:c.3G>A MANE Select	NP_000548.2:p.Met1Ile
NM_001319138.2:c.3G>A	NP_001306067.1:p.Met1Ile