Canonical Allele Identifier: CA259352

Gene: GALT

Linked Data

• dbSNP Id: rs111033666
• MyVariant Identifiers: chr9:g.34647501T>C (hg19) ; chr9:g.34647504T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647504T>C , CM000671.2:g.34647504T>C	GRCh38
NC_000009.11:g.34647501T>C , CM000671.1:g.34647501T>C	GRCh37
NC_000009.10:g.34637501T>C	NCBI36
NG_009029.1:g.5867T>C
NG_028966.1:g.320T>C
NG_009029.2:g.5916T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.265T>C	ENSP00000509954.1:p.Tyr89His
ENST00000378842.8:c.265T>C MANE Select	ENSP00000368119.4:p.Tyr89His
ENST00000378842.7:c.265T>C	ENSP00000368119.3:p.Tyr89His
ENST00000450095.6:c.50+246T>C	ENSP00000401956.2:n.50+246T>C
ENST00000465543.6:n.604T>C
ENST00000468099.2:n.538T>C
ENST00000472111.5:n.306T>C
ENST00000473506.6:c.253-37T>C	ENSP00000432839.2:n.253-37T>C
ENST00000473529.5:n.312T>C
ENST00000485531.1:n.491T>C
ENST00000487381.5:n.524T>C
ENST00000489643.6:n.282+246T>C
ENST00000554085.5:c.*9T>C	ENSP00000450419.1:n.*9T>C
ENST00000554139.5:n.318T>C
ENST00000554330.5:n.250-37T>C
ENST00000554550.5:c.252+246T>C	ENSP00000451435.1:n.252+246T>C
ENST00000554638.5:n.522T>C
ENST00000554897.5:c.252+246T>C	ENSP00000450942.1:n.252+246T>C
ENST00000554944.5:n.283-37T>C
ENST00000555020.5:n.295T>C
ENST00000555086.5:n.269T>C
ENST00000555214.5:n.261+246T>C
ENST00000556157.1:n.389T>C
ENST00000556244.1:c.252T>C
ENST00000556278.1:c.252+246T>C	ENSP00000451792.1:n.252+246T>C
ENST00000556403.5:n.278T>C
ENST00000556494.5:n.297T>C
ENST00000557541.5:n.446-37T>C
ENST00000557706.5:n.612T>C
NM_000155.3:c.265T>C	NP_000146.2:p.Tyr89His
NM_001258332.1:c.50+246T>C	NP_001245261.1:n.50+246T>C
NM_000155.4:c.265T>C MANE Select	NP_000146.2:p.Tyr89His
NM_001258332.2:c.50+246T>C	NP_001245261.1:n.50+246T>C