Canonical Allele Identifier: CA5036217

Gene: GALT

Linked Data

• dbSNP Id: rs780926830
• ExAC: 9:34648881 T / C
• gnomAD v2: 9-34648881-T-C
• gnomAD v4: 9-34648884-T-C
• MyVariant Identifiers: chr9:g.34648881T>C (hg19) ; chr9:g.34648884T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648884T>C , CM000671.2:g.34648884T>C	GRCh38
NC_000009.11:g.34648881T>C , CM000671.1:g.34648881T>C	GRCh37
NC_000009.10:g.34638881T>C	NCBI36
NG_009029.1:g.7247T>C
NG_028966.1:g.1700T>C
NG_009029.2:g.7296T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*398T>C	ENSP00000509954.1:n.*398T>C
ENST00000378842.8:c.810T>C MANE Select	ENSP00000368119.4:p.Ala270=
ENST00000378842.7:c.810T>C	ENSP00000368119.3:p.Ala270=
ENST00000450095.6:c.483T>C	ENSP00000401956.2:p.Ala161=
ENST00000473506.6:c.*398T>C	ENSP00000432839.2:n.*398T>C
ENST00000489643.6:n.890T>C
ENST00000554085.5:c.*554T>C	ENSP00000450419.1:n.*554T>C
ENST00000554550.5:c.*430T>C	ENSP00000451435.1:n.*430T>C
ENST00000554638.5:n.1282T>C
ENST00000555020.5:n.1271T>C
ENST00000555086.5:n.814T>C
ENST00000555754.1:n.155T>C
ENST00000556244.1:c.797T>C
ENST00000556278.1:c.432+428T>C	ENSP00000451792.1:n.432+428T>C
ENST00000557706.5:n.1372T>C
NM_000155.3:c.810T>C	NP_000146.2:p.Ala270=
NM_001258332.1:c.483T>C	NP_001245261.1:p.Ala161=
NM_000155.4:c.810T>C MANE Select	NP_000146.2:p.Ala270=
NM_001258332.2:c.483T>C	NP_001245261.1:p.Ala161=