Canonical Allele Identifier: CA371751660
Gene: GDF6 HGNC NCBI

Linked Data

ClinVar Variation Id: 2954015
ClinVar RCV Id: RCV003813238
MyVariant Identifiers: chr8:g.97157304C>G (hg19) chr8:g.96145076C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96145076C>G , CM000670.2:g.96145076C>G GRCh38
NC_000008.10:g.97157304C>G , CM000670.1:g.97157304C>G GRCh37
NC_000008.9:g.97226480C>G NCBI36
NG_008981.1:g.20717G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000287020.7:c.855G>C MANE Select ENSP00000287020.4:p.Gln285His
ENST00000287020.6:c.855G>C ENSP00000287020.4:p.Gln285His
ENST00000620978.1:c.793G>C ENSP00000480170.1:p.Ala265Pro
ENST00000621429.1:c.855G>C ENSP00000483711.1:p.Gln285His
NM_001001557.2:c.855G>C NP_001001557.1:p.Gln285His
XM_011517030.1:c.456G>C XP_011515332.1:p.Gln152His
NM_001001557.3:c.855G>C NP_001001557.1:p.Gln285His
NM_001001557.4:c.855G>C MANE Select NP_001001557.1:p.Gln285His
Search 100 bp 5'
Search 100 bp 3'