Canonical Allele Identifier: CA7131405
Gene: TGM1 HGNC NCBI

Linked Data

dbSNP Id: rs750543171
ExAC: 14:24730939 T / C
gnomAD v2: 14-24730939-T-C
gnomAD v4: 14-24261733-T-C
MyVariant Identifiers: chr14:g.24730939T>C (hg19) chr14:g.24261733T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24261733T>C , CM000676.2:g.24261733T>C GRCh38
NC_000014.8:g.24730939T>C , CM000676.1:g.24730939T>C GRCh37
NC_000014.7:g.23800779T>C NCBI36
NG_007150.1:g.6434A>G
NG_007150.2:g.6434A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.470A>G MANE Select ENSP00000206765.6:p.Tyr157Cys
ENST00000206765.10:c.470A>G ENSP00000206765.6:p.Tyr157Cys
ENST00000544573.5:c.-29+394A>G ENSP00000439446.1:n.-29+394A>G
NM_000359.2:c.470A>G NP_000350.1:p.Tyr157Cys
NM_000359.3:c.470A>G MANE Select NP_000350.1:p.Tyr157Cys
Search 100 bp 5'
Search 100 bp 3'