Canonical Allele Identifier: CA14615900
Gene: GALR1 HGNC NCBI
MyVariant.info:
GRCh38 chr18:g.77256371T>C
GRCh37 chr18:g.74968327T>C
gnomAD v2:
18:74968327 T / C
gnomAD v3:
18:77256371 T / C
gnomAD v4:
chr18-77256371-T-C
Joint Max Group AF 0.54200548 (EAS)
Genomes Max Group AF 0.51807618 (EAS)
Exomes Max Group AF 0.54396005 (EAS)
dbSNP:
2717162
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.77256371T>C , CM000680.2:g.77256371T>C GRCh38
NC_000018.9:g.74968327T>C , CM000680.1:g.74968327T>C GRCh37
NC_000018.8:g.73097315T>C NCBI36
NG_009223.1:g.11320T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299727.5:c.732+148T>C MANE Select ENSP00000299727.3:n.732+148T>C
ENST00000299727.4:c.732+148T>C ENSP00000299727.3:n.732+148T>C
NM_001480.3:c.732+148T>C NP_001471.2:n.732+148T>C
XM_017025691.1:c.732+148T>C XP_016881180.1:n.732+148T>C
NM_001480.4:c.732+148T>C MANE Select NP_001471.2:n.732+148T>C
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