Canonical Allele Identifier: CA121818313

Gene: RASA1 CCNH

Linked Data

• ClinVar Variation Id: 1214231
• ClinVar RCV Id: RCV001581965
• dbSNP Id: rs200153311
• gnomAD v2: 5-86629426-C-A
• gnomAD v3: 5-87333609-C-A
• gnomAD v4: 5-87333609-C-A
• MyVariant Identifiers: chr5:g.86629426C>A (hg19) ; chr5:g.87333609C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87333609C>A , CM000667.2:g.87333609C>A	GRCh38
NC_000005.9:g.86629426C>A , CM000667.1:g.86629426C>A	GRCh37
NC_000005.8:g.86665182C>A	NCBI36
NG_011650.1:g.70276C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.899+272C>A (RASA1) MANE Select	ENSP00000274376.6:n.899+272C>A
ENST00000645953.1:c.*91-14712G>T (CCNH)	ENSP00000494460.1:n.*91-14712G>T
ENST00000274376.10:c.899+272C>A (RASA1)	ENSP00000274376.6:n.899+272C>A
ENST00000456692.6:c.368+272C>A (RASA1)	ENSP00000411221.2:n.368+272C>A
ENST00000506290.1:c.401+272C>A (RASA1)	ENSP00000420905.1:n.401+272C>A
ENST00000512763.5:c.398+272C>A (RASA1)	ENSP00000422008.1:n.398+272C>A
ENST00000515800.6:c.899+272C>A (RASA1)	ENSP00000423395.2:n.899+272C>A
NM_002890.2:c.899+272C>A (RASA1)	NP_002881.1:n.899+272C>A
NM_022650.2:c.368+272C>A (RASA1)	NP_072179.1:n.368+272C>A
XM_011543525.1:c.899+272C>A (RASA1)	XP_011541827.1:n.899+272C>A
XM_011543526.1:c.899+272C>A (RASA1)	XP_011541828.1:n.899+272C>A
XM_011543527.1:c.899+272C>A (RASA1)	XP_011541829.1:n.899+272C>A
NM_001364075.1:c.934-20814G>T (CCNH)	NP_001351004.1:n.934-20814G>T
NR_157068.1:n.1448-20814G>T (CCNH)
NR_157069.1:n.1041-20814G>T (CCNH)
NR_157070.1:n.1205-20814G>T (CCNH)
XM_011543525.2:c.899+272C>A (RASA1)	XP_011541827.1:n.899+272C>A
XM_011543527.3:c.899+272C>A (RASA1)	XP_011541829.1:n.899+272C>A
NM_001364075.2:c.934-20814G>T (CCNH)	NP_001351004.1:n.934-20814G>T
NM_002890.3:c.899+272C>A (RASA1) MANE Select	NP_002881.1:n.899+272C>A
NR_157068.2:n.1448-20814G>T (CCNH)
NR_157069.2:n.1041-20814G>T (CCNH)
NR_157070.2:n.1205-20814G>T (CCNH)
NM_022650.3:c.368+272C>A (RASA1)	NP_072179.1:n.368+272C>A