Canonical Allele Identifier: CA3336173

Gene: RASA1 CCNH

Linked Data

• dbSNP Id: rs748623110
• ExAC: 5:86685219 G / C
• gnomAD v2: 5-86685219-G-C
• gnomAD v4: 5-87389402-G-C
• MyVariant Identifiers: chr5:g.86685219G>C (hg19) ; chr5:g.87389402G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87389402G>C , CM000667.2:g.87389402G>C	GRCh38
NC_000005.9:g.86685219G>C , CM000667.1:g.86685219G>C	GRCh37
NC_000005.8:g.86720975G>C	NCBI36
NG_011650.1:g.126069G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.2935G>C (RASA1) MANE Select	ENSP00000274376.6:p.Glu979Gln
ENST00000645953.1:c.*90+3368C>G (CCNH)	ENSP00000494460.1:n.*90+3368C>G
ENST00000646883.1:c.254+3368C>G (CCNH)
ENST00000274376.10:c.2935G>C (RASA1)	ENSP00000274376.6:p.Glu979Gln
ENST00000456692.6:c.2404G>C (RASA1)	ENSP00000411221.2:p.Glu802Gln
ENST00000506290.1:c.2437G>C (RASA1)	ENSP00000420905.1:p.Glu813Gln
ENST00000512763.5:c.2434G>C (RASA1)	ENSP00000422008.1:p.Glu812Gln
ENST00000515800.6:c.*1550G>C (RASA1)	ENSP00000423395.2:n.*1550G>C
NM_002890.2:c.2935G>C (RASA1)	NP_002881.1:p.Glu979Gln
NM_022650.2:c.2404G>C (RASA1)	NP_072179.1:p.Glu802Gln
XM_011543525.1:c.2848G>C (RASA1)	XP_011541827.1:p.Glu950Gln
NM_001364075.1:c.933+5642C>G (CCNH)	NP_001351004.1:n.933+5642C>G
NR_157068.1:n.1447+3368C>G (CCNH)
NR_157069.1:n.1040+3368C>G (CCNH)
NR_157070.1:n.1204+3368C>G (CCNH)
XM_011543525.2:c.2848G>C (RASA1)	XP_011541827.1:p.Glu950Gln
NM_001364075.2:c.933+5642C>G (CCNH)	NP_001351004.1:n.933+5642C>G
NM_002890.3:c.2935G>C (RASA1) MANE Select	NP_002881.1:p.Glu979Gln
NR_157068.2:n.1447+3368C>G (CCNH)
NR_157069.2:n.1040+3368C>G (CCNH)
NR_157070.2:n.1204+3368C>G (CCNH)
NM_022650.3:c.2404G>C (RASA1)	NP_072179.1:p.Glu802Gln