Canonical Allele Identifier: CA383142226

Gene: SIAE

Linked Data

• MyVariant Identifiers: chr11:g.124507073C>G (hg19) ; chr11:g.124637177C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.124637177C>G , CM000673.2:g.124637177C>G	GRCh38
NC_000011.9:g.124507073C>G , CM000673.1:g.124507073C>G	GRCh37
NC_000011.8:g.124012283C>G	NCBI36
NG_028132.1:g.44127G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263593.8:c.1346G>C MANE Select	ENSP00000263593.3:p.Cys449Ser
ENST00000263593.7:c.1346G>C	ENSP00000263593.3:p.Cys449Ser
ENST00000545756.5:c.1241G>C	ENSP00000437877.1:p.Cys414Ser
ENST00000618733.4:c.1241G>C	ENSP00000478211.1:p.Cys414Ser
NM_001199922.1:c.1241G>C	NP_001186851.1:p.Cys414Ser
NM_170601.4:c.1346G>C	NP_733746.1:p.Cys449Ser
XM_011542874.1:c.773G>C	XP_011541176.1:p.Cys258Ser
XM_017017930.1:c.773G>C	XP_016873419.1:p.Cys258Ser
NM_170601.5:c.1346G>C MANE Select	NP_733746.1:p.Cys449Ser
NM_001199922.2:c.1241G>C	NP_001186851.1:p.Cys414Ser