Canonical Allele Identifier: CA373278752

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34647215T>C (hg19) ; chr9:g.34647218T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647218T>C , CM000671.2:g.34647218T>C	GRCh38
NC_000009.11:g.34647215T>C , CM000671.1:g.34647215T>C	GRCh37
NC_000009.10:g.34637215T>C	NCBI36
NG_009029.1:g.5581T>C
NG_028966.1:g.34T>C
NG_009029.2:g.5630T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.212T>C	ENSP00000509954.1:p.Leu71Pro
ENST00000378842.8:c.212T>C MANE Select	ENSP00000368119.4:p.Leu71Pro
ENST00000378842.7:c.212T>C	ENSP00000368119.3:p.Leu71Pro
ENST00000450095.6:c.10T>C	ENSP00000401956.2:p.Ser4Pro
ENST00000465543.6:n.551T>C
ENST00000468099.2:n.252T>C
ENST00000472111.5:n.253T>C
ENST00000473506.6:c.212T>C	ENSP00000432839.2:p.Leu71Pro
ENST00000473529.5:n.259T>C
ENST00000485531.1:n.205T>C
ENST00000487381.5:n.238T>C
ENST00000489643.6:n.242T>C
ENST00000554085.5:c.212T>C	ENSP00000450419.1:p.Leu71Pro
ENST00000554139.5:n.265T>C
ENST00000554330.5:n.209T>C
ENST00000554550.5:c.212T>C	ENSP00000451435.1:p.Leu71Pro
ENST00000554638.5:n.236T>C
ENST00000554897.5:c.212T>C	ENSP00000450942.1:p.Leu71Pro
ENST00000554944.5:n.242T>C
ENST00000555020.5:n.242T>C
ENST00000555086.5:n.216T>C
ENST00000555214.5:n.221T>C
ENST00000556157.1:n.319T>C
ENST00000556244.1:c.96T>C
ENST00000556278.1:c.212T>C	ENSP00000451792.1:p.Leu71Pro
ENST00000556403.5:n.225T>C
ENST00000556494.5:n.244T>C
ENST00000557541.5:n.405T>C
ENST00000557706.5:n.326T>C
NM_000155.3:c.212T>C	NP_000146.2:p.Leu71Pro
NM_001258332.1:c.10T>C	NP_001245261.1:p.Ser4Pro
NM_000155.4:c.212T>C MANE Select	NP_000146.2:p.Leu71Pro
NM_001258332.2:c.10T>C	NP_001245261.1:p.Ser4Pro