Canonical Allele Identifier: CA462454583

Gene: GDF6

Linked Data

• dbSNP Id: rs759021639
• gnomAD v2: 8-97157403-G-T
• gnomAD v4: 8-96145175-G-T
• MyVariant Identifiers: chr8:g.97157403G>T (hg19) ; chr8:g.96145175G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.96145175G>T , CM000670.2:g.96145175G>T	GRCh38
NC_000008.10:g.97157403G>T , CM000670.1:g.97157403G>T	GRCh37
NC_000008.9:g.97226579G>T	NCBI36
NG_008981.1:g.20618C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287020.7:c.756C>A MANE Select	ENSP00000287020.4:p.Pro252=
ENST00000287020.6:c.756C>A	ENSP00000287020.4:p.Pro252=
ENST00000620978.1:c.707-13C>A	ENSP00000480170.1:n.707-13C>A
ENST00000621429.1:c.756C>A	ENSP00000483711.1:p.Pro252=
NM_001001557.2:c.756C>A	NP_001001557.1:p.Pro252=
XM_011517030.1:c.357C>A	XP_011515332.1:p.Pro119=
NM_001001557.3:c.756C>A	NP_001001557.1:p.Pro252=
NM_001001557.4:c.756C>A MANE Select	NP_001001557.1:p.Pro252=