Canonical Allele Identifier: CA2628140826
Gene: STRC HGNC NCBI
CKMT1B HGNC NCBI

Linked Data

gnomAD v4: 15-43599580-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43599580T>G , CM000677.2:g.43599580T>G GRCh38
NC_000015.9:g.43891778T>G , CM000677.1:g.43891778T>G GRCh37
NC_000015.8:g.41679070T>G NCBI36
NG_011636.1:g.24221A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.*92A>C (STRC) MANE Select ENSP00000401513.2:n.*92A>C
ENST00000411560.1:n.142+47T>G (CKMT1B)
ENST00000450892.6:c.*92A>C (STRC) ENSP00000401513.2:n.*92A>C
ENST00000541030.5:c.*92A>C (STRC) ENSP00000440413.1:n.*92A>C
NM_153700.2:c.*92A>C (STRC) MANE Select NP_714544.1:n.*92A>C
XM_011521277.1:c.*92A>C (STRC) XP_011519579.1:n.*92A>C
XM_011521278.1:c.*92A>C (STRC) XP_011519580.1:n.*92A>C
XM_011521279.1:c.*92A>C (STRC) XP_011519581.1:n.*92A>C
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