Canonical Allele Identifier: CA1158961352
Gene: GALE HGNC NCBI

Linked Data

dbSNP Id: rs1639015180
gnomAD v4: 1-23798025-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23798025T>G , CM000663.2:g.23798025T>G GRCh38
NC_000001.10:g.24124515T>G , CM000663.1:g.24124515T>G GRCh37
NC_000001.9:g.23997102T>G NCBI36
NG_007068.1:g.7780A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000617979.5:c.351+92A>C MANE Select ENSP00000483375.1:n.351+92A>C
ENST00000374497.7:c.351+92A>C ENSP00000363621.3:n.351+92A>C
ENST00000418277.5:c.159+92A>C ENSP00000414719.1:n.159+92A>C
ENST00000425913.5:c.351+92A>C ENSP00000393359.1:n.351+92A>C
ENST00000429356.5:c.159+92A>C ENSP00000398585.1:n.159+92A>C
ENST00000445705.1:c.351+92A>C ENSP00000398257.1:n.351+92A>C
ENST00000459934.5:n.469+92A>C
ENST00000467493.5:n.811+92A>C
ENST00000470949.5:n.296+92A>C
ENST00000481736.5:n.755+92A>C
ENST00000617979.4:c.351+92A>C ENSP00000483375.1:n.351+92A>C
NM_000403.3:c.351+92A>C NP_000394.2:n.351+92A>C
NM_001008216.1:c.351+92A>C NP_001008217.1:n.351+92A>C
NM_001127621.1:c.351+92A>C NP_001121093.1:n.351+92A>C
NM_001008216.2:c.351+92A>C MANE Select NP_001008217.1:n.351+92A>C
NM_000403.4:c.351+92A>C NP_000394.2:n.351+92A>C
NM_001127621.2:c.351+92A>C NP_001121093.1:n.351+92A>C