Canonical Allele Identifier: CA314131825

Gene: GDF5

Linked Data

• dbSNP Id: rs977498612
• gnomAD v2: 20-34026102-T-C
• gnomAD v3: 20-35438322-T-C
• gnomAD v4: 20-35438322-T-C
• MyVariant Identifiers: chr20:g.34026102T>C (hg19) ; chr20:g.35438322T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35438322T>C , CM000682.2:g.35438322T>C	GRCh38
NC_000020.10:g.34026102T>C , CM000682.1:g.34026102T>C	GRCh37
NC_000020.9:g.33489516T>C	NCBI36
NG_008076.2:g.4898A>G
NG_008076.3:g.21425A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374372.1:c.-241-153A>G	ENSP00000363492.1:n.-241-153A>G
XM_011529075.1:c.-241-153A>G	XP_011527377.1:n.-241-153A>G
XM_011529076.1:c.-241-153A>G	XP_011527378.1:n.-241-153A>G
NM_001319138.1:c.-241-153A>G	NP_001306067.1:n.-241-153A>G
NM_001319138.2:c.-241-153A>G	NP_001306067.1:n.-241-153A>G