Canonical Allele Identifier: CA685517

Gene: GALE

Linked Data

• dbSNP Id: rs759512529
• ExAC: 1:24123049 A / G
• gnomAD v2: 1-24123049-A-G
• gnomAD v4: 1-23796559-A-G
• MyVariant Identifiers: chr1:g.24123049A>G (hg19) ; chr1:g.23796559A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23796559A>G , CM000663.2:g.23796559A>G	GRCh38
NC_000001.10:g.24123049A>G , CM000663.1:g.24123049A>G	GRCh37
NC_000001.9:g.23995636A>G	NCBI36
NG_007068.1:g.9246T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617979.5:c.823T>C MANE Select	ENSP00000483375.1:p.Tyr275His
ENST00000374497.7:c.823T>C	ENSP00000363621.3:p.Tyr275His
ENST00000418277.5:c.631T>C	ENSP00000414719.1:p.Tyr211His
ENST00000429356.5:c.603+138T>C	ENSP00000398585.1:n.603+138T>C
ENST00000456977.5:c.153+138T>C	ENSP00000397045.1:n.153+138T>C
ENST00000459934.5:n.1051T>C
ENST00000469556.1:n.327T>C
ENST00000481736.5:n.1227T>C
ENST00000617979.4:c.823T>C	ENSP00000483375.1:p.Tyr275His
NM_000403.3:c.823T>C	NP_000394.2:p.Tyr275His
NM_001008216.1:c.823T>C	NP_001008217.1:p.Tyr275His
NM_001127621.1:c.823T>C	NP_001121093.1:p.Tyr275His
NM_001008216.2:c.823T>C MANE Select	NP_001008217.1:p.Tyr275His
NM_000403.4:c.823T>C	NP_000394.2:p.Tyr275His
NM_001127621.2:c.823T>C	NP_001121093.1:p.Tyr275His