Canonical Allele Identifier: CA5576797
Gene: MAT1A HGNC NCBI

Linked Data

dbSNP Id: rs767900678
ExAC: 10:82040087 C / G
gnomAD v2: 10-82040087-C-G
gnomAD v3: 10-80280331-C-G
gnomAD v4: 10-80280331-C-G
MyVariant Identifiers: chr10:g.82040087C>G (hg19) chr10:g.80280331C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80280331C>G , CM000672.2:g.80280331C>G GRCh38
NC_000010.10:g.82040087C>G , CM000672.1:g.82040087C>G GRCh37
NC_000010.9:g.82030067C>G NCBI36
NG_008083.1:g.14348G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.406-15G>C MANE Select ENSP00000361287.3:n.406-15G>C
ENST00000372213.7:c.406-15G>C ENSP00000361287.3:n.406-15G>C
ENST00000455001.1:c.217-15G>C ENSP00000414961.1:n.217-15G>C
NM_000429.2:c.406-15G>C NP_000420.1:n.406-15G>C
XM_005269842.3:c.406-15G>C XP_005269899.1:n.406-15G>C
XM_005269843.3:c.283-15G>C XP_005269900.1:n.283-15G>C
NM_000429.3:c.406-15G>C MANE Select NP_000420.1:n.406-15G>C
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