Canonical Allele Identifier: CA371751748

Gene: GDF6

Linked Data

• gnomAD v4: 8-96145107-C-G
• MyVariant Identifiers: chr8:g.97157335C>G (hg19) ; chr8:g.96145107C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.96145107C>G , CM000670.2:g.96145107C>G	GRCh38
NC_000008.10:g.97157335C>G , CM000670.1:g.97157335C>G	GRCh37
NC_000008.9:g.97226511C>G	NCBI36
NG_008981.1:g.20686G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287020.7:c.824G>C MANE Select	ENSP00000287020.4:p.Arg275Pro
ENST00000287020.6:c.824G>C	ENSP00000287020.4:p.Arg275Pro
ENST00000620978.1:c.762G>C	ENSP00000480170.1:p.Ala254=
ENST00000621429.1:c.824G>C	ENSP00000483711.1:p.Arg275Pro
NM_001001557.2:c.824G>C	NP_001001557.1:p.Arg275Pro
XM_011517030.1:c.425G>C	XP_011515332.1:p.Arg142Pro
NM_001001557.3:c.824G>C	NP_001001557.1:p.Arg275Pro
NM_001001557.4:c.824G>C MANE Select	NP_001001557.1:p.Arg275Pro