Canonical Allele Identifier: CA3859297
Gene: GCM1 HGNC NCBI

Linked Data

dbSNP Id: rs13200319
gnomAD v2: 6-52993002-G-A
gnomAD v3: 6-53128204-G-A
gnomAD v4: 6-53128204-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.53128204G>A , CM000668.2:g.53128204G>A GRCh38
NC_000006.11:g.52993002G>A , CM000668.1:g.52993002G>A GRCh37
NC_000006.10:g.53100961G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000259803.8:c.*2C>T MANE Select ENSP00000259803.7:n.*2C>T
ENST00000259803.7:c.*2C>T ENSP00000259803.7:n.*2C>T
NM_003643.3:c.*2C>T NP_003634.2:n.*2C>T
XM_017011390.2:c.*2C>T XP_016866879.1:n.*2C>T
NM_003643.4:c.*2C>T MANE Select NP_003634.2:n.*2C>T