Canonical Allele Identifier: CA5036212

Gene: GALT

Linked Data

• dbSNP Id: rs759752899
• ExAC: 9:34648862 T / C
• gnomAD v2: 9-34648862-T-C
• gnomAD v4: 9-34648865-T-C
• MyVariant Identifiers: chr9:g.34648862T>C (hg19) ; chr9:g.34648865T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648865T>C , CM000671.2:g.34648865T>C	GRCh38
NC_000009.11:g.34648862T>C , CM000671.1:g.34648862T>C	GRCh37
NC_000009.10:g.34638862T>C	NCBI36
NG_009029.1:g.7228T>C
NG_028966.1:g.1681T>C
NG_009029.2:g.7277T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*379T>C	ENSP00000509954.1:n.*379T>C
ENST00000378842.8:c.791T>C MANE Select	ENSP00000368119.4:p.Leu264Pro
ENST00000378842.7:c.791T>C	ENSP00000368119.3:p.Leu264Pro
ENST00000450095.6:c.464T>C	ENSP00000401956.2:p.Leu155Pro
ENST00000473506.6:c.*379T>C	ENSP00000432839.2:n.*379T>C
ENST00000489643.6:n.871T>C
ENST00000554085.5:c.*535T>C	ENSP00000450419.1:n.*535T>C
ENST00000554550.5:c.*411T>C	ENSP00000451435.1:n.*411T>C
ENST00000554638.5:n.1263T>C
ENST00000555020.5:n.1252T>C
ENST00000555086.5:n.795T>C
ENST00000555754.1:n.136T>C
ENST00000556244.1:c.778T>C
ENST00000556278.1:c.432+409T>C	ENSP00000451792.1:n.432+409T>C
ENST00000557706.5:n.1353T>C
NM_000155.3:c.791T>C	NP_000146.2:p.Leu264Pro
NM_001258332.1:c.464T>C	NP_001245261.1:p.Leu155Pro
NM_000155.4:c.791T>C MANE Select	NP_000146.2:p.Leu264Pro
NM_001258332.2:c.464T>C	NP_001245261.1:p.Leu155Pro