Canonical Allele Identifier: CA3414387
Gene: SAR1B HGNC NCBI

Linked Data

dbSNP Id: rs767353250
ExAC: 5:133942610 G / A
gnomAD v2: 5-133942610-G-A
gnomAD v3: 5-134606920-G-A
gnomAD v4: 5-134606920-G-A
MyVariant Identifiers: chr5:g.133942610G>A (hg19) chr5:g.134606920G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.134606920G>A , CM000667.2:g.134606920G>A GRCh38
NC_000005.9:g.133942610G>A , CM000667.1:g.133942610G>A GRCh37
NC_000005.8:g.133970509G>A NCBI36
NG_017002.1:g.30924C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000402673.7:c.*30C>T MANE Select ENSP00000385432.2:n.*30C>T
ENST00000402673.6:c.*30C>T ENSP00000385432.2:n.*30C>T
ENST00000439578.5:c.*30C>T ENSP00000404997.1:n.*30C>T
ENST00000502539.5:c.*30C>T ENSP00000426335.1:n.*30C>T
ENST00000507419.5:c.*30C>T ENSP00000425339.1:n.*30C>T
ENST00000508363.5:n.2596C>T
NM_001033503.2:c.*30C>T NP_001028675.1:n.*30C>T
NM_016103.3:c.*30C>T NP_057187.1:n.*30C>T
NM_016103.4:c.*30C>T MANE Select NP_057187.1:n.*30C>T
NM_001033503.3:c.*30C>T NP_001028675.1:n.*30C>T
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