Canonical Allele Identifier: CA373279071

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34647493A>C (hg19) ; chr9:g.34647496A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647496A>C , CM000671.2:g.34647496A>C	GRCh38
NC_000009.11:g.34647493A>C , CM000671.1:g.34647493A>C	GRCh37
NC_000009.10:g.34637493A>C	NCBI36
NG_009029.1:g.5859A>C
NG_028966.1:g.312A>C
NG_009029.2:g.5908A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.257A>C	ENSP00000509954.1:p.Asn86Thr
ENST00000378842.8:c.257A>C MANE Select	ENSP00000368119.4:p.Asn86Thr
ENST00000378842.7:c.257A>C	ENSP00000368119.3:p.Asn86Thr
ENST00000450095.6:c.50+238A>C	ENSP00000401956.2:n.50+238A>C
ENST00000465543.6:n.596A>C
ENST00000468099.2:n.530A>C
ENST00000472111.5:n.298A>C
ENST00000473506.6:c.253-45A>C	ENSP00000432839.2:n.253-45A>C
ENST00000473529.5:n.304A>C
ENST00000485531.1:n.483A>C
ENST00000487381.5:n.516A>C
ENST00000489643.6:n.282+238A>C
ENST00000554085.5:c.*1A>C	ENSP00000450419.1:n.*1A>C
ENST00000554139.5:n.310A>C
ENST00000554330.5:n.250-45A>C
ENST00000554550.5:c.252+238A>C	ENSP00000451435.1:n.252+238A>C
ENST00000554638.5:n.514A>C
ENST00000554897.5:c.252+238A>C	ENSP00000450942.1:n.252+238A>C
ENST00000554944.5:n.283-45A>C
ENST00000555020.5:n.287A>C
ENST00000555086.5:n.261A>C
ENST00000555214.5:n.261+238A>C
ENST00000556157.1:n.381A>C
ENST00000556244.1:c.244A>C
ENST00000556278.1:c.252+238A>C	ENSP00000451792.1:n.252+238A>C
ENST00000556403.5:n.270A>C
ENST00000556494.5:n.289A>C
ENST00000557541.5:n.446-45A>C
ENST00000557706.5:n.604A>C
NM_000155.3:c.257A>C	NP_000146.2:p.Asn86Thr
NM_001258332.1:c.50+238A>C	NP_001245261.1:n.50+238A>C
NM_000155.4:c.257A>C MANE Select	NP_000146.2:p.Asn86Thr
NM_001258332.2:c.50+238A>C	NP_001245261.1:n.50+238A>C