Canonical Allele Identifier: CA8262588
Gene: GEMIN4 HGNC NCBI

Linked Data

dbSNP Id: rs373624818
gnomAD v2: 17-649638-C-T
gnomAD v4: 17-746398-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.746398C>T , CM000679.2:g.746398C>T GRCh38
NC_000017.10:g.649638C>T , CM000679.1:g.649638C>T GRCh37
NC_000017.9:g.596388C>T NCBI36
NG_046938.1:g.11475G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000319004.6:c.1645G>A MANE Select ENSP00000321706.5:p.Val549Met
ENST00000319004.5:c.1645G>A ENSP00000321706.5:p.Val549Met
ENST00000576778.1:c.1612G>A ENSP00000459565.1:p.Val538Met
NM_015721.2:c.1645G>A NP_056536.2:p.Val549Met
XM_005256667.3:c.1657G>A XP_005256724.1:p.Val553Met
XM_005256668.3:c.1657G>A XP_005256725.1:p.Val553Met
XM_005256670.3:c.1612G>A XP_005256727.1:p.Val538Met
XM_011523910.1:c.1657G>A XP_011522212.1:p.Val553Met
XM_011523911.1:c.1657G>A XP_011522213.1:p.Val553Met
XM_011523912.1:c.1612G>A XP_011522214.1:p.Val538Met
XM_011523913.1:c.1612G>A XP_011522215.1:p.Val538Met
XM_005256667.4:c.1657G>A XP_005256724.1:p.Val553Met
XM_005256670.5:c.1612G>A XP_005256727.1:p.Val538Met
XM_011523910.2:c.1657G>A XP_011522212.1:p.Val553Met
XM_011523911.2:c.1657G>A XP_011522213.1:p.Val553Met
XM_011523912.2:c.1612G>A XP_011522214.1:p.Val538Met
XM_011523913.2:c.1612G>A XP_011522215.1:p.Val538Met
XM_017024709.1:c.1657G>A XP_016880198.1:p.Val553Met
NM_015721.3:c.1645G>A MANE Select NP_056536.2:p.Val549Met