Canonical Allele Identifier: CA2676173271
Gene: MRPL22 HGNC NCBI

Linked Data

gnomAD v4: 5-154969004-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.154969004T>C , CM000667.2:g.154969004T>C GRCh38
NC_000005.9:g.154348564T>C , CM000667.1:g.154348564T>C GRCh37
NC_000005.8:g.154328757T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000523037.6:c.*2107T>C MANE Select ENSP00000431040.1:n.*2107T>C
ENST00000265229.12:c.*2107T>C ENSP00000265229.8:n.*2107T>C
ENST00000522038.5:c.*2107T>C ENSP00000429039.1:n.*2107T>C
ENST00000523037.5:c.*2107T>C ENSP00000431040.1:n.*2107T>C
NM_001014990.2:c.*2107T>C NP_001014990.1:n.*2107T>C
NM_014180.3:c.*2107T>C NP_054899.2:n.*2107T>C
NM_014180.4:c.*2107T>C MANE Select NP_054899.2:n.*2107T>C
NM_001014990.3:c.*2107T>C NP_001014990.1:n.*2107T>C
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