Canonical Allele Identifier: CA19281853
Gene: GALE HGNC NCBI

Linked Data

dbSNP Id: rs1006718483
gnomAD v3: 1-23798065-G-C
gnomAD v4: 1-23798065-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23798065G>C , CM000663.2:g.23798065G>C GRCh38
NC_000001.10:g.24124555G>C , CM000663.1:g.24124555G>C GRCh37
NC_000001.9:g.23997142G>C NCBI36
NG_007068.1:g.7740C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000617979.5:c.351+52C>G MANE Select ENSP00000483375.1:n.351+52C>G
ENST00000374497.7:c.351+52C>G ENSP00000363621.3:n.351+52C>G
ENST00000418277.5:c.159+52C>G ENSP00000414719.1:n.159+52C>G
ENST00000425913.5:c.351+52C>G ENSP00000393359.1:n.351+52C>G
ENST00000429356.5:c.159+52C>G ENSP00000398585.1:n.159+52C>G
ENST00000445705.1:c.351+52C>G ENSP00000398257.1:n.351+52C>G
ENST00000459934.5:n.469+52C>G
ENST00000467493.5:n.811+52C>G
ENST00000470949.5:n.296+52C>G
ENST00000481736.5:n.755+52C>G
ENST00000617979.4:c.351+52C>G ENSP00000483375.1:n.351+52C>G
NM_000403.3:c.351+52C>G NP_000394.2:n.351+52C>G
NM_001008216.1:c.351+52C>G NP_001008217.1:n.351+52C>G
NM_001127621.1:c.351+52C>G NP_001121093.1:n.351+52C>G
NM_001008216.2:c.351+52C>G MANE Select NP_001008217.1:n.351+52C>G
NM_000403.4:c.351+52C>G NP_000394.2:n.351+52C>G
NM_001127621.2:c.351+52C>G NP_001121093.1:n.351+52C>G