Canonical Allele Identifier: CA339006661

Gene: GALE

Linked Data

• gnomAD v4: 1-23796534-G-T
• MyVariant Identifiers: chr1:g.24123024G>T (hg19) ; chr1:g.23796534G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23796534G>T , CM000663.2:g.23796534G>T	GRCh38
NC_000001.10:g.24123024G>T , CM000663.1:g.24123024G>T	GRCh37
NC_000001.9:g.23995611G>T	NCBI36
NG_007068.1:g.9271C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617979.5:c.848C>A MANE Select	ENSP00000483375.1:p.Ala283Asp
ENST00000374497.7:c.848C>A	ENSP00000363621.3:p.Ala283Asp
ENST00000418277.5:c.656C>A	ENSP00000414719.1:p.Ala219Asp
ENST00000429356.5:c.603+163C>A	ENSP00000398585.1:n.603+163C>A
ENST00000456977.5:c.153+163C>A	ENSP00000397045.1:n.153+163C>A
ENST00000459934.5:n.1076C>A
ENST00000469556.1:n.352C>A
ENST00000481736.5:n.1252C>A
ENST00000617979.4:c.848C>A	ENSP00000483375.1:p.Ala283Asp
NM_000403.3:c.848C>A	NP_000394.2:p.Ala283Asp
NM_001008216.1:c.848C>A	NP_001008217.1:p.Ala283Asp
NM_001127621.1:c.848C>A	NP_001121093.1:p.Ala283Asp
NM_001008216.2:c.848C>A MANE Select	NP_001008217.1:p.Ala283Asp
NM_000403.4:c.848C>A	NP_000394.2:p.Ala283Asp
NM_001127621.2:c.848C>A	NP_001121093.1:p.Ala283Asp