Canonical Allele Identifier: CA5036106

Gene: GALT

Linked Data

• dbSNP Id: rs375199940
• ExAC: 9:34647743 T / C
• gnomAD v2: 9-34647743-T-C
• gnomAD v4: 9-34647746-T-C
• MyVariant Identifiers: chr9:g.34647743T>C (hg19) ; chr9:g.34647746T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647746T>C , CM000671.2:g.34647746T>C	GRCh38
NC_000009.11:g.34647743T>C , CM000671.1:g.34647743T>C	GRCh37
NC_000009.10:g.34637743T>C	NCBI36
NG_009029.1:g.6109T>C
NG_028966.1:g.562T>C
NG_009029.2:g.6158T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.329-86T>C	ENSP00000509954.1:n.329-86T>C
ENST00000378842.8:c.377+41T>C MANE Select	ENSP00000368119.4:n.377+41T>C
ENST00000378842.7:c.377+41T>C	ENSP00000368119.3:n.377+41T>C
ENST00000450095.6:c.51-86T>C	ENSP00000401956.2:n.51-86T>C
ENST00000465543.6:n.716+41T>C
ENST00000472111.5:n.548T>C
ENST00000473506.6:c.328+41T>C	ENSP00000432839.2:n.328+41T>C
ENST00000473529.5:n.513+41T>C
ENST00000485531.1:n.733T>C
ENST00000487381.5:n.677T>C
ENST00000489643.6:n.283-369T>C
ENST00000554085.5:c.*121+41T>C	ENSP00000450419.1:n.*121+41T>C
ENST00000554139.5:n.471T>C
ENST00000554330.5:n.455T>C
ENST00000554550.5:c.253-86T>C	ENSP00000451435.1:n.253-86T>C
ENST00000554638.5:n.764T>C
ENST00000554897.5:c.253-86T>C	ENSP00000450942.1:n.253-86T>C
ENST00000554944.5:n.488T>C
ENST00000555020.5:n.448T>C
ENST00000555086.5:n.381+41T>C
ENST00000555214.5:n.262-302T>C
ENST00000556157.1:n.542T>C
ENST00000556244.1:c.364+41T>C
ENST00000556278.1:c.253-369T>C	ENSP00000451792.1:n.253-369T>C
ENST00000556403.5:n.520T>C
ENST00000556494.5:n.498+41T>C
ENST00000557541.5:n.521+41T>C
ENST00000557706.5:n.854T>C
NM_000155.3:c.377+41T>C	NP_000146.2:n.377+41T>C
NM_001258332.1:c.51-86T>C	NP_001245261.1:n.51-86T>C
NM_000155.4:c.377+41T>C MANE Select	NP_000146.2:n.377+41T>C
NM_001258332.2:c.51-86T>C	NP_001245261.1:n.51-86T>C