Canonical Allele Identifier: CA5036057

Gene: GALT

Linked Data

• dbSNP Id: rs755820364
• ExAC: 9:34647388 T / C
• gnomAD v2: 9-34647388-T-C
• gnomAD v4: 9-34647391-T-C
• MyVariant Identifiers: chr9:g.34647388T>C (hg19) ; chr9:g.34647391T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647391T>C , CM000671.2:g.34647391T>C	GRCh38
NC_000009.11:g.34647388T>C , CM000671.1:g.34647388T>C	GRCh37
NC_000009.10:g.34637388T>C	NCBI36
NG_009029.1:g.5754T>C
NG_028966.1:g.207T>C
NG_009029.2:g.5803T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.253-101T>C	ENSP00000509954.1:n.253-101T>C
ENST00000378842.8:c.253-101T>C MANE Select	ENSP00000368119.4:n.253-101T>C
ENST00000378842.7:c.253-101T>C	ENSP00000368119.3:n.253-101T>C
ENST00000450095.6:c.50+133T>C	ENSP00000401956.2:n.50+133T>C
ENST00000465543.6:n.592-101T>C
ENST00000468099.2:n.425T>C
ENST00000472111.5:n.294-101T>C
ENST00000473506.6:c.252+133T>C	ENSP00000432839.2:n.252+133T>C
ENST00000473529.5:n.300-101T>C
ENST00000485531.1:n.378T>C
ENST00000487381.5:n.411T>C
ENST00000489643.6:n.282+133T>C
ENST00000554085.5:c.253-84T>C	ENSP00000450419.1:n.253-84T>C
ENST00000554139.5:n.306-101T>C
ENST00000554330.5:n.249+133T>C
ENST00000554550.5:c.252+133T>C	ENSP00000451435.1:n.252+133T>C
ENST00000554638.5:n.409T>C
ENST00000554897.5:c.252+133T>C	ENSP00000450942.1:n.252+133T>C
ENST00000554944.5:n.282+133T>C
ENST00000555020.5:n.283-101T>C
ENST00000555086.5:n.257-101T>C
ENST00000555214.5:n.261+133T>C
ENST00000556157.1:n.360-84T>C
ENST00000556244.1:c.139T>C
ENST00000556278.1:c.252+133T>C	ENSP00000451792.1:n.252+133T>C
ENST00000556403.5:n.266-101T>C
ENST00000556494.5:n.285-101T>C
ENST00000557541.5:n.445+133T>C
ENST00000557706.5:n.499T>C
NM_000155.3:c.253-101T>C	NP_000146.2:n.253-101T>C
NM_001258332.1:c.50+133T>C	NP_001245261.1:n.50+133T>C
NM_000155.4:c.253-101T>C MANE Select	NP_000146.2:n.253-101T>C
NM_001258332.2:c.50+133T>C	NP_001245261.1:n.50+133T>C