Canonical Allele Identifier: CA389278031
Gene: TGM1 HGNC NCBI

Linked Data

dbSNP Id: rs1319217828
gnomAD v2: 14-24730994-G-C
MyVariant Identifiers: chr14:g.24730994G>C (hg19) chr14:g.24261788G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24261788G>C , CM000676.2:g.24261788G>C GRCh38
NC_000014.8:g.24730994G>C , CM000676.1:g.24730994G>C GRCh37
NC_000014.7:g.23800834G>C NCBI36
NG_007150.1:g.6379C>G
NG_007150.2:g.6379C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000206765.11:c.415C>G MANE Select ENSP00000206765.6:p.Leu139Val
ENST00000206765.10:c.415C>G ENSP00000206765.6:p.Leu139Val
ENST00000544573.5:c.-29+339C>G ENSP00000439446.1:n.-29+339C>G
NM_000359.2:c.415C>G NP_000350.1:p.Leu139Val
NM_000359.3:c.415C>G MANE Select NP_000350.1:p.Leu139Val
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