Canonical Allele Identifier: CA10619540
Community Standard Title: NM_000345.4(SNCA):c.*2227C>A
Gene: SNCA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.89724401G>T , CM000666.2:g.89724401G>T GRCh38
NC_000004.11:g.90645552G>T , CM000666.1:g.90645552G>T GRCh37
NC_000004.10:g.90864575G>T NCBI36
NG_011851.1:g.118896C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000345.4:c.*2227C>A MANE Select NP_000336.1:n.*2227C>A
ENST00000394991.8:c.*2227C>A MANE Select ENSP00000378442.4:n.*2227C>A
NM_000345.3:c.*2227C>A NP_000336.1:n.*2227C>A
NM_001146054.1:c.*2227C>A NP_001139526.1:n.*2227C>A
NM_001146054.2:c.*2227C>A NP_001139526.1:n.*2227C>A
NM_001146055.1:c.*2227C>A NP_001139527.1:n.*2227C>A
NM_001146055.2:c.*2227C>A NP_001139527.1:n.*2227C>A
NM_001375285.1:c.*2227C>A NP_001362214.1:n.*2227C>A
NM_001375286.1:c.*2227C>A NP_001362215.1:n.*2227C>A
NM_001375287.1:c.*2227C>A NP_001362216.1:n.*2227C>A
NM_001375288.1:c.*2227C>A NP_001362217.1:n.*2227C>A
NM_001375290.1:c.*2227C>A NP_001362219.1:n.*2227C>A
NM_007308.2:c.*2227C>A NP_009292.1:n.*2227C>A
NM_007308.3:c.*2227C>A NP_009292.1:n.*2227C>A
NR_164674.1:n.2190C>A
NR_164675.1:n.2337C>A
NR_164676.1:n.2948C>A
ENST00000336904.7:c.*2227C>A ENSP00000338345.3:n.*2227C>A
ENST00000394989.6:c.*2227C>A ENSP00000378440.2:n.*2227C>A
ENST00000420646.6:c.*2227C>A ENSP00000396241.2:n.*2227C>A
ENST00000618500.4:c.*2227C>A ENSP00000484044.1:n.*2227C>A
ENST00000673718.1:c.*2227C>A ENSP00000500990.1:n.*2227C>A
ENST00000673766.1:n.2905C>A
ENST00000673902.1:c.390+4793C>A ENSP00000501102.1:n.390+4793C>A