Canonical Allele Identifier: CA250324
Community Standard Title: NM_144499.3(GNAT1):c.386A>G (p.Asp129Gly)
Gene: GNAT1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.50193600A>G , CM000665.2:g.50193600A>G GRCh38
NC_000003.11:g.50231033A>G , CM000665.1:g.50231033A>G GRCh37
NC_000003.10:g.50206037A>G NCBI36
NG_009831.1:g.6991A>G

Transcript Alleles

HGVS Amino-acid Change
NM_144499.3:c.386A>G MANE Select NP_653082.1:p.Asp129Gly
ENST00000232461.8:c.386A>G MANE Select ENSP00000232461.3:p.Asp129Gly
NM_000172.3:c.386A>G NP_000163.2:p.Asp129Gly
NM_000172.4:c.386A>G NP_000163.2:p.Asp129Gly
NM_144499.2:c.386A>G NP_653082.1:p.Asp129Gly
ENST00000232461.7:c.386A>G ENSP00000232461.3:p.Asp129Gly
ENST00000433068.5:c.386A>G ENSP00000387555.1:p.Asp129Gly
ENST00000440836.1:c.242A>G ENSP00000403537.1:p.Asp81Gly
ENST00000481246.1:n.29A>G
XM_011533595.1:c.242A>G XP_011531897.1:p.Asp81Gly
XM_011533596.1:c.242A>G XP_011531898.1:p.Asp81Gly
XR_940416.1:n.666A>G
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