Canonical Allele Identifier: CA4815413
Gene: GDF6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1983258
ClinVar RCV Id: RCV002795242
dbSNP Id: rs759021639
ExAC: 8:97157403 G / A
gnomAD v2: 8-97157403-G-A
gnomAD v4: 8-96145175-G-A
MyVariant Identifiers: chr8:g.97157403G>A (hg19) chr8:g.96145175G>A (hg38)
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Genomic Alleles

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

Transcript Alleles

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