Canonical Allele Identifier: CA111252947
Gene: GPM6A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.175727181C>G , CM000666.2:g.175727181C>G GRCh38
NC_000004.11:g.176648332C>G , CM000666.1:g.176648332C>G GRCh37
NC_000004.10:g.176885326C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000393658.7:c.38-25414G>C MANE Select ENSP00000377268.2:n.38-25414G>C
ENST00000280187.11:c.38-25414G>C ENSP00000280187.7:n.38-25414G>C
ENST00000393658.6:c.38-25414G>C ENSP00000377268.2:n.38-25414G>C
ENST00000502754.5:c.-152-25414G>C ENSP00000426821.1:n.-152-25414G>C
ENST00000503397.5:c.14-25414G>C ENSP00000422959.1:n.14-25414G>C
ENST00000505304.1:c.17-25414G>C ENSP00000425463.1:n.17-25414G>C
ENST00000505375.5:c.-152-25414G>C ENSP00000424125.1:n.-152-25414G>C
ENST00000505561.5:c.-152-25414G>C ENSP00000425409.1:n.-152-25414G>C
ENST00000506894.5:c.5-25414G>C ENSP00000421578.1:n.5-25414G>C
ENST00000507520.5:c.-152-25414G>C ENSP00000424075.1:n.-152-25414G>C
ENST00000507540.1:c.-152-25414G>C ENSP00000421407.1:n.-152-25414G>C
ENST00000509865.5:c.-152-25414G>C ENSP00000422712.1:n.-152-25414G>C
ENST00000512509.5:c.-152-25414G>C ENSP00000424443.1:n.-152-25414G>C
ENST00000512610.5:c.-152-25414G>C ENSP00000426984.1:n.-152-25414G>C
ENST00000512897.5:c.-152-25414G>C ENSP00000425925.1:n.-152-25414G>C
ENST00000513365.1:c.38-25414G>C ENSP00000423122.1:n.38-25414G>C
ENST00000513667.5:c.-152-25414G>C ENSP00000421373.1:n.-152-25414G>C
ENST00000515090.5:c.17-25414G>C ENSP00000423984.1:n.17-25414G>C
NM_001261447.1:c.283-75194G>C NP_001248376.1:n.283-75194G>C
NM_001261448.1:c.17-25414G>C NP_001248377.1:n.17-25414G>C
NM_005277.4:c.38-25414G>C NP_005268.1:n.38-25414G>C
NM_201591.2:c.38-25414G>C NP_963885.1:n.38-25414G>C
NM_201592.2:c.5-25414G>C NP_963886.1:n.5-25414G>C
NR_048571.1:n.443-75194G>C
XM_011531877.1:c.-152-25414G>C XP_011530179.1:n.-152-25414G>C
NM_001388090.1:c.-152-25414G>C NP_001375019.1:n.-152-25414G>C
NM_005277.5:c.38-25414G>C NP_005268.1:n.38-25414G>C
NM_201591.3:c.38-25414G>C MANE Select NP_963885.1:n.38-25414G>C
NM_201592.3:c.5-25414G>C NP_963886.1:n.5-25414G>C
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