Canonical Allele Identifier: CA373282030

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648379T>C (hg19) ; chr9:g.34648382T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648382T>C , CM000671.2:g.34648382T>C	GRCh38
NC_000009.11:g.34648379T>C , CM000671.1:g.34648379T>C	GRCh37
NC_000009.10:g.34638379T>C	NCBI36
NG_009029.1:g.6745T>C
NG_028966.1:g.1198T>C
NG_009029.2:g.6794T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*201T>C	ENSP00000509954.1:n.*201T>C
ENST00000378842.8:c.613T>C MANE Select	ENSP00000368119.4:p.Ser205Pro
ENST00000378842.7:c.613T>C	ENSP00000368119.3:p.Ser205Pro
ENST00000450095.6:c.286T>C	ENSP00000401956.2:p.Ser96Pro
ENST00000472111.5:n.869T>C
ENST00000473506.6:c.*201T>C	ENSP00000432839.2:n.*201T>C
ENST00000473529.5:n.772T>C
ENST00000487381.5:n.998T>C
ENST00000489643.6:n.388T>C
ENST00000554085.5:c.*357T>C	ENSP00000450419.1:n.*357T>C
ENST00000554550.5:c.*233T>C	ENSP00000451435.1:n.*233T>C
ENST00000554638.5:n.1085T>C
ENST00000554944.5:n.962T>C
ENST00000555020.5:n.769T>C
ENST00000555086.5:n.617T>C
ENST00000555214.5:n.434T>C
ENST00000556244.1:c.600T>C
ENST00000556278.1:c.358T>C	ENSP00000451792.1:p.Ser120Pro
ENST00000556494.5:n.734T>C
ENST00000557706.5:n.1175T>C
NM_000155.3:c.613T>C	NP_000146.2:p.Ser205Pro
NM_001258332.1:c.286T>C	NP_001245261.1:p.Ser96Pro
NM_000155.4:c.613T>C MANE Select	NP_000146.2:p.Ser205Pro
NM_001258332.2:c.286T>C	NP_001245261.1:p.Ser96Pro