Canonical Allele Identifier: CA360417459

Gene: RASA1

Linked Data

• gnomAD v4: 5-87268924-C-T
• MyVariant Identifiers: chr5:g.86564741C>T (hg19) ; chr5:g.87268924C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87268924C>T , CM000667.2:g.87268924C>T	GRCh38
NC_000005.9:g.86564741C>T , CM000667.1:g.86564741C>T	GRCh37
NC_000005.8:g.86600497C>T	NCBI36
NG_011650.1:g.5591C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.473C>T MANE Select	ENSP00000274376.6:p.Ser158Phe
ENST00000274376.10:c.473C>T	ENSP00000274376.6:p.Ser158Phe
ENST00000515800.6:c.473C>T	ENSP00000423395.2:p.Ser158Phe
NM_002890.2:c.473C>T	NP_002881.1:p.Ser158Phe
NM_022650.2:c.-124C>T	NP_072179.1:n.-124C>T
XM_011543525.1:c.473C>T	XP_011541827.1:p.Ser158Phe
XM_011543526.1:c.473C>T	XP_011541828.1:p.Ser158Phe
XM_011543527.1:c.473C>T	XP_011541829.1:p.Ser158Phe
XM_011543525.2:c.473C>T	XP_011541827.1:p.Ser158Phe
XM_011543527.3:c.473C>T	XP_011541829.1:p.Ser158Phe
NM_002890.3:c.473C>T MANE Select	NP_002881.1:p.Ser158Phe