Canonical Allele Identifier: CA130120213
Gene: MRPL22 HGNC NCBI

Linked Data

dbSNP Id: rs112993322

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.154968996C>T , CM000667.2:g.154968996C>T GRCh38
NC_000005.9:g.154348556C>T , CM000667.1:g.154348556C>T GRCh37
NC_000005.8:g.154328749C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000523037.6:c.*2099C>T MANE Select ENSP00000431040.1:n.*2099C>T
ENST00000265229.12:c.*2099C>T ENSP00000265229.8:n.*2099C>T
ENST00000522038.5:c.*2099C>T ENSP00000429039.1:n.*2099C>T
ENST00000523037.5:c.*2099C>T ENSP00000431040.1:n.*2099C>T
NM_001014990.2:c.*2099C>T NP_001014990.1:n.*2099C>T
NM_014180.3:c.*2099C>T NP_054899.2:n.*2099C>T
NM_014180.4:c.*2099C>T MANE Select NP_054899.2:n.*2099C>T
NM_001014990.3:c.*2099C>T NP_001014990.1:n.*2099C>T