Canonical Allele Identifier: CA121818305

Gene: RASA1 CCNH

Linked Data

• dbSNP Id: rs564262562
• gnomAD v2: 5-86681514-C-T
• gnomAD v3: 5-87385697-C-T
• gnomAD v4: 5-87385697-C-T
• MyVariant Identifiers: chr5:g.86681514C>T (hg19) ; chr5:g.86681514_86681518delinsTACAA (hg19) ; chr5:g.87385697C>T (hg38) ; chr5:g.87385697_87385701delinsTACAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87385697C>T , CM000667.2:g.87385697C>T	GRCh38
NC_000005.9:g.86681514C>T , CM000667.1:g.86681514C>T	GRCh37
NC_000005.8:g.86717270C>T	NCBI36
NG_011650.1:g.122364C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.2847+308C>T (RASA1) MANE Select	ENSP00000274376.6:n.2847+308C>T
ENST00000645953.1:c.*90+7073G>A (CCNH)	ENSP00000494460.1:n.*90+7073G>A
ENST00000646883.1:c.254+7073G>A (CCNH)
ENST00000274376.10:c.2847+308C>T (RASA1)	ENSP00000274376.6:n.2847+308C>T
ENST00000456692.6:c.2316+308C>T (RASA1)	ENSP00000411221.2:n.2316+308C>T
ENST00000506290.1:c.2349+308C>T (RASA1)	ENSP00000420905.1:n.2349+308C>T
ENST00000512763.5:c.2346+308C>T (RASA1)	ENSP00000422008.1:n.2346+308C>T
ENST00000515800.6:c.*1372+308C>T (RASA1)	ENSP00000423395.2:n.*1372+308C>T
NM_002890.2:c.2847+308C>T (RASA1)	NP_002881.1:n.2847+308C>T
NM_022650.2:c.2316+308C>T (RASA1)	NP_072179.1:n.2316+308C>T
XM_011543525.1:c.2760+308C>T (RASA1)	XP_011541827.1:n.2760+308C>T
XM_011543526.1:c.2847+308C>T (RASA1)	XP_011541828.1:n.2847+308C>T
NM_001364075.1:c.933+9347G>A (CCNH)	NP_001351004.1:n.933+9347G>A
NR_157068.1:n.1447+7073G>A (CCNH)
NR_157069.1:n.1040+7073G>A (CCNH)
NR_157070.1:n.1204+7073G>A (CCNH)
XM_011543525.2:c.2760+308C>T (RASA1)	XP_011541827.1:n.2760+308C>T
NM_001364075.2:c.933+9347G>A (CCNH)	NP_001351004.1:n.933+9347G>A
NM_002890.3:c.2847+308C>T (RASA1) MANE Select	NP_002881.1:n.2847+308C>T
NR_157068.2:n.1447+7073G>A (CCNH)
NR_157069.2:n.1040+7073G>A (CCNH)
NR_157070.2:n.1204+7073G>A (CCNH)
NM_022650.3:c.2316+308C>T (RASA1)	NP_072179.1:n.2316+308C>T