Canonical Allele Identifier: CA501842690

Gene: GALK1

Linked Data

• ClinVar Variation Id: 1593690
• ClinVar RCV Id: RCV002105144
• dbSNP Id: rs2143604949
• MyVariant Identifiers: chr17:g.73760009G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75763928G>A , CM000679.2:g.75763928G>A	GRCh38
NC_000017.10:g.73760009G>A , CM000679.1:g.73760009G>A	GRCh37
NC_000017.9:g.71271604G>A	NCBI36
NG_008079.1:g.6272C>T
NG_008079.2:g.6272C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000587707.2:c.324C>T	ENSP00000468341.2:p.Asn108=
ENST00000592997.6:c.324C>T	ENSP00000464765.2:p.Asn108=
ENST00000588479.6:c.324C>T MANE Select	ENSP00000465930.1:p.Asn108=
ENST00000225614.6:c.324C>T	ENSP00000225614.1:p.Asn108=
ENST00000586244.1:c.324C>T	ENSP00000468288.1:p.Asn108=
ENST00000587707.1:c.78C>T	ENSP00000468341.1:p.Asn26=
ENST00000588479.5:c.324C>T	ENSP00000465930.1:p.Asn108=
ENST00000589030.1:n.321C>T
ENST00000592494.1:n.345C>T
NM_000154.1:c.324C>T	NP_000145.1:p.Asn108=
NM_000154.2:c.324C>T MANE Select	NP_000145.1:p.Asn108=
NM_001381985.1:c.324C>T	NP_001368914.1:p.Asn108=