Canonical Allele Identifier: CA464595662

Gene: GALT

Linked Data

• ClinVar Variation Id: 1160943
• ClinVar RCV Id: RCV001505242
• dbSNP Id: rs1362198825
• gnomAD v2: 9-34647111-G-C
• gnomAD v3: 9-34647114-G-C
• gnomAD v4: 9-34647114-G-C
• MyVariant Identifiers: chr9:g.34647111G>C (hg19) ; chr9:g.34647114G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647114G>C , CM000671.2:g.34647114G>C	GRCh38
NC_000009.11:g.34647111G>C , CM000671.1:g.34647111G>C	GRCh37
NC_000009.10:g.34637111G>C	NCBI36
NG_009029.1:g.5477G>C
NG_009029.2:g.5526G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.108G>C	ENSP00000509954.1:p.Pro36=
ENST00000378842.8:c.108G>C MANE Select	ENSP00000368119.4:p.Pro36=
ENST00000378842.7:c.108G>C	ENSP00000368119.3:p.Pro36=
ENST00000450095.6:c.-95G>C	ENSP00000401956.2:n.-95G>C
ENST00000465543.6:n.447G>C
ENST00000468099.2:n.155-7G>C
ENST00000472111.5:n.149G>C
ENST00000473506.6:c.108G>C	ENSP00000432839.2:p.Pro36=
ENST00000473529.5:n.155G>C
ENST00000485531.1:n.101G>C
ENST00000487381.5:n.134G>C
ENST00000489643.6:n.138G>C
ENST00000554085.5:c.108G>C	ENSP00000450419.1:p.Pro36=
ENST00000554139.5:n.161G>C
ENST00000554330.5:n.105G>C
ENST00000554550.5:c.108G>C	ENSP00000451435.1:p.Pro36=
ENST00000554638.5:n.132G>C
ENST00000554897.5:c.108G>C	ENSP00000450942.1:p.Pro36=
ENST00000554944.5:n.138G>C
ENST00000555020.5:n.138G>C
ENST00000555086.5:n.112G>C
ENST00000555214.5:n.117G>C
ENST00000556157.1:n.215G>C
ENST00000556278.1:c.108G>C	ENSP00000451792.1:p.Pro36=
ENST00000556403.5:n.121G>C
ENST00000556494.5:n.140G>C
ENST00000557541.5:n.301G>C
ENST00000557706.5:n.222G>C
ENST00000605275.1:n.646G>C
NM_000155.3:c.108G>C	NP_000146.2:p.Pro36=
NM_001258332.1:c.-95G>C	NP_001245261.1:n.-95G>C
NM_000155.4:c.108G>C MANE Select	NP_000146.2:p.Pro36=
NM_001258332.2:c.-95G>C	NP_001245261.1:n.-95G>C