Canonical Allele Identifier: CA10622532

Gene: GDF9 UQCRQ

Linked Data

• ClinVar Variation Id: 350838
• ClinVar RCV Id: RCV000323740
• dbSNP Id: rs527907338
• gnomAD v2: 5-132202375-G-C
• gnomAD v3: 5-132866683-G-C
• gnomAD v4: 5-132866683-G-C
• MyVariant Identifiers: chr5:g.132202375G>C (hg19) ; chr5:g.132866683G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132866683G>C , CM000667.2:g.132866683G>C	GRCh38
NC_000005.9:g.132202375G>C , CM000667.1:g.132202375G>C	GRCh37
NC_000005.8:g.132230274G>C	NCBI36
NG_012221.1:g.5057G>C
NG_047051.1:g.5202C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000624492.4:c.-116C>G (GDF9)	ENSP00000485037.1:n.-116C>G
ENST00000378670.8:c.-18G>C (UQCRQ) MANE Select	ENSP00000367939.3:n.-18G>C
ENST00000378665.1:c.-199G>C (UQCRQ)	ENSP00000367934.1:n.-199G>C
ENST00000378667.1:c.-22G>C (UQCRQ)	ENSP00000367936.1:n.-22G>C
ENST00000378670.7:c.-18G>C (UQCRQ)	ENSP00000367939.3:n.-18G>C
ENST00000472320.1:n.202C>G (GDF9)
ENST00000480372.1:n.27G>C (UQCRQ)
ENST00000496429.1:n.42G>C (UQCRQ)
ENST00000498309.1:n.51G>C (UQCRQ)
ENST00000621295.4:c.-232C>G (GDF9)	ENSP00000484339.1:n.-232C>G
ENST00000624492.3:c.-116C>G (GDF9)	ENSP00000485037.1:n.-116C>G
NM_001288824.2:c.-116C>G (GDF9)	NP_001275753.1:n.-116C>G
NM_001288825.2:c.-232C>G (GDF9)	NP_001275754.1:n.-232C>G
NM_014402.4:c.-18G>C (UQCRQ)	NP_055217.2:n.-18G>C
NM_014402.5:c.-18G>C (UQCRQ) MANE Select	NP_055217.2:n.-18G>C