Canonical Allele Identifier: CA373278744

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34647211C>T (hg19) ; chr9:g.34647214C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647214C>T , CM000671.2:g.34647214C>T	GRCh38
NC_000009.11:g.34647211C>T , CM000671.1:g.34647211C>T	GRCh37
NC_000009.10:g.34637211C>T	NCBI36
NG_009029.1:g.5577C>T
NG_028966.1:g.30C>T
NG_009029.2:g.5626C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.208C>T	ENSP00000509954.1:p.Pro70Ser
ENST00000378842.8:c.208C>T MANE Select	ENSP00000368119.4:p.Pro70Ser
ENST00000378842.7:c.208C>T	ENSP00000368119.3:p.Pro70Ser
ENST00000450095.6:c.6C>T	ENSP00000401956.2:p.Thr2=
ENST00000465543.6:n.547C>T
ENST00000468099.2:n.248C>T
ENST00000472111.5:n.249C>T
ENST00000473506.6:c.208C>T	ENSP00000432839.2:p.Pro70Ser
ENST00000473529.5:n.255C>T
ENST00000485531.1:n.201C>T
ENST00000487381.5:n.234C>T
ENST00000489643.6:n.238C>T
ENST00000554085.5:c.208C>T	ENSP00000450419.1:p.Pro70Ser
ENST00000554139.5:n.261C>T
ENST00000554330.5:n.205C>T
ENST00000554550.5:c.208C>T	ENSP00000451435.1:p.Pro70Ser
ENST00000554638.5:n.232C>T
ENST00000554897.5:c.208C>T	ENSP00000450942.1:p.Pro70Ser
ENST00000554944.5:n.238C>T
ENST00000555020.5:n.238C>T
ENST00000555086.5:n.212C>T
ENST00000555214.5:n.217C>T
ENST00000556157.1:n.315C>T
ENST00000556244.1:c.92C>T
ENST00000556278.1:c.208C>T	ENSP00000451792.1:p.Pro70Ser
ENST00000556403.5:n.221C>T
ENST00000556494.5:n.240C>T
ENST00000557541.5:n.401C>T
ENST00000557706.5:n.322C>T
NM_000155.3:c.208C>T	NP_000146.2:p.Pro70Ser
NM_001258332.1:c.6C>T	NP_001245261.1:p.Thr2=
NM_000155.4:c.208C>T MANE Select	NP_000146.2:p.Pro70Ser
NM_001258332.2:c.6C>T	NP_001245261.1:p.Thr2=