Canonical Allele Identifier: CA121822026

Gene: RASA1 CCNH

Linked Data

• dbSNP Id: rs971030159
• gnomAD v3: 5-87389428-T-C
• gnomAD v4: 5-87389428-T-C
• MyVariant Identifiers: chr5:g.86685245T>C (hg19) ; chr5:g.87389428T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87389428T>C , CM000667.2:g.87389428T>C	GRCh38
NC_000005.9:g.86685245T>C , CM000667.1:g.86685245T>C	GRCh37
NC_000005.8:g.86721001T>C	NCBI36
NG_011650.1:g.126095T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000274376.11:c.2961T>C (RASA1) MANE Select	ENSP00000274376.6:p.Ser987=
ENST00000645953.1:c.*90+3342A>G (CCNH)	ENSP00000494460.1:n.*90+3342A>G
ENST00000646883.1:c.254+3342A>G (CCNH)
ENST00000274376.10:c.2961T>C (RASA1)	ENSP00000274376.6:p.Ser987=
ENST00000456692.6:c.2430T>C (RASA1)	ENSP00000411221.2:p.Ser810=
ENST00000506290.1:c.2463T>C (RASA1)	ENSP00000420905.1:p.Ser821=
ENST00000512763.5:c.2460T>C (RASA1)	ENSP00000422008.1:p.Ser820=
ENST00000515800.6:c.*1576T>C (RASA1)	ENSP00000423395.2:n.*1576T>C
NM_002890.2:c.2961T>C (RASA1)	NP_002881.1:p.Ser987=
NM_022650.2:c.2430T>C (RASA1)	NP_072179.1:p.Ser810=
XM_011543525.1:c.2874T>C (RASA1)	XP_011541827.1:p.Ser958=
NM_001364075.1:c.933+5616A>G (CCNH)	NP_001351004.1:n.933+5616A>G
NR_157068.1:n.1447+3342A>G (CCNH)
NR_157069.1:n.1040+3342A>G (CCNH)
NR_157070.1:n.1204+3342A>G (CCNH)
XM_011543525.2:c.2874T>C (RASA1)	XP_011541827.1:p.Ser958=
NM_001364075.2:c.933+5616A>G (CCNH)	NP_001351004.1:n.933+5616A>G
NM_002890.3:c.2961T>C (RASA1) MANE Select	NP_002881.1:p.Ser987=
NR_157068.2:n.1447+3342A>G (CCNH)
NR_157069.2:n.1040+3342A>G (CCNH)
NR_157070.2:n.1204+3342A>G (CCNH)
NM_022650.3:c.2430T>C (RASA1)	NP_072179.1:p.Ser810=