Canonical Allele Identifier: CA415774597
Gene: SKI HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.2234822G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2303383G>T , CM000663.2:g.2303383G>T GRCh38
NC_000001.10:g.2234822G>T , CM000663.1:g.2234822G>T GRCh37
NC_000001.9:g.2224682G>T NCBI36
NG_013084.1:g.79689G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000704337.1:n.362G>T
ENST00000378536.5:c.1194G>T MANE Select ENSP00000367797.4:p.Pro398=
ENST00000378536.4:c.1194G>T ENSP00000367797.4:p.Pro398=
NM_003036.3:c.1194G>T NP_003027.1:p.Pro398=
XM_005244775.2:c.1194G>T XP_005244832.1:p.Pro398=
XM_005244776.3:c.324G>T XP_005244833.1:p.Pro108=
XM_005244775.3:c.1194G>T XP_005244832.1:p.Pro398=
XM_005244776.4:c.324G>T XP_005244833.1:p.Pro108=
XM_017002128.1:c.702G>T XP_016857617.1:p.Pro234=
NM_003036.4:c.1194G>T MANE Select NP_003027.1:p.Pro398=