Canonical Allele Identifier: CA635351978

Gene: GDF5

Linked Data

• dbSNP Id: rs1401955641
• gnomAD v2: 20-34026032-G-A
• gnomAD v3: 20-35438252-G-A
• gnomAD v4: 20-35438252-G-A
• MyVariant Identifiers: chr20:g.34026032G>A (hg19) ; chr20:g.35438252G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35438252G>A , CM000682.2:g.35438252G>A	GRCh38
NC_000020.10:g.34026032G>A , CM000682.1:g.34026032G>A	GRCh37
NC_000020.9:g.33489446G>A	NCBI36
NG_008076.2:g.4968C>T
NG_008076.3:g.21495C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374372.1:c.-241-83C>T	ENSP00000363492.1:n.-241-83C>T
XM_011529075.1:c.-241-83C>T	XP_011527377.1:n.-241-83C>T
XM_011529076.1:c.-241-83C>T	XP_011527378.1:n.-241-83C>T
NM_001319138.1:c.-241-83C>T	NP_001306067.1:n.-241-83C>T
NM_001319138.2:c.-241-83C>T	NP_001306067.1:n.-241-83C>T