Canonical Allele Identifier: CA2275671639
Gene: GALK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75764583T= , CM000679.2:g.75764583T= GRCh38
NC_000017.10:g.73760664T= , CM000679.1:g.73760664T= GRCh37
NC_000017.9:g.71272259T= NCBI36
NG_008079.1:g.5617A=
NG_008079.2:g.5617A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000587707.2:c.165+389A= ENSP00000468341.2:n.165+389A=
ENST00000592997.6:c.165+389A= ENSP00000464765.2:n.165+389A=
ENST00000588479.6:c.165+389A= MANE Select ENSP00000465930.1:n.165+389A=
ENST00000225614.6:c.165+389A= ENSP00000225614.1:n.165+389A=
ENST00000586244.1:c.165+389A= ENSP00000468288.1:n.165+389A=
ENST00000588479.5:c.165+389A= ENSP00000465930.1:n.165+389A=
ENST00000589030.1:n.162+389A=
ENST00000592494.1:n.186+389A=
NM_000154.1:c.165+389A= NP_000145.1:n.165+389A=
NM_000154.2:c.165+389A= MANE Select NP_000145.1:n.165+389A=
NM_001381985.1:c.165+389A= NP_001368914.1:n.165+389A=