Canonical Allele Identifier: CA371752158

Gene: GDF6

Linked Data

• gnomAD v4: 8-96145283-G-C
• MyVariant Identifiers: chr8:g.97157511G>C (hg19) ; chr8:g.96145283G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.96145283G>C , CM000670.2:g.96145283G>C	GRCh38
NC_000008.10:g.97157511G>C , CM000670.1:g.97157511G>C	GRCh37
NC_000008.9:g.97226687G>C	NCBI36
NG_008981.1:g.20510C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287020.7:c.648C>G MANE Select	ENSP00000287020.4:p.Asp216Glu
ENST00000287020.6:c.648C>G	ENSP00000287020.4:p.Asp216Glu
ENST00000620978.1:c.648C>G	ENSP00000480170.1:p.Asp216Glu
ENST00000621429.1:c.648C>G	ENSP00000483711.1:p.Asp216Glu
NM_001001557.2:c.648C>G	NP_001001557.1:p.Asp216Glu
XM_011517030.1:c.249C>G	XP_011515332.1:p.Asp83Glu
NM_001001557.3:c.648C>G	NP_001001557.1:p.Asp216Glu
NM_001001557.4:c.648C>G MANE Select	NP_001001557.1:p.Asp216Glu