Canonical Allele Identifier: CA406175077

Gene: ETHE1

Linked Data

• COSMIC: COSM1750954
• MyVariant Identifiers: chr19:g.44012212C>G (hg19) ; chr19:g.43508060C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43508060C>G , CM000681.2:g.43508060C>G	GRCh38
NC_000019.9:g.44012212C>G , CM000681.1:g.44012212C>G	GRCh37
NC_000019.8:g.48704052C>G	NCBI36
NG_008141.1:g.24185G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292147.7:c.596G>C MANE Select	ENSP00000292147.1:p.Gly199Ala
ENST00000292147.6:c.596G>C	ENSP00000292147.1:p.Gly199Ala
ENST00000594342.5:c.*159G>C	ENSP00000469652.1:n.*159G>C
ENST00000598330.1:c.*159G>C	ENSP00000469219.1:n.*159G>C
ENST00000600651.5:c.596G>C	ENSP00000469037.1:p.Gly199Ala
NM_014297.3:c.596G>C	NP_055112.2:p.Gly199Ala
XM_005258687.2:c.515G>C	XP_005258744.1:p.Gly172Ala
XM_005258688.2:c.227G>C	XP_005258745.1:p.Gly76Ala
XM_011526685.1:c.317G>C	XP_011524987.1:p.Gly106Ala
NM_001320867.1:c.563G>C	NP_001307796.1:p.Gly188Ala
NM_001320868.1:c.227G>C	NP_001307797.1:p.Gly76Ala
NM_001320869.1:c.302G>C	NP_001307798.1:p.Gly101Ala
NM_014297.4:c.596G>C	NP_055112.2:p.Gly199Ala
XM_005258687.4:c.515G>C	XP_005258744.1:p.Gly172Ala
NM_014297.5:c.596G>C MANE Select	NP_055112.2:p.Gly199Ala
NM_001320867.2:c.563G>C	NP_001307796.1:p.Gly188Ala
NM_001320868.2:c.227G>C	NP_001307797.1:p.Gly76Ala
NM_001320869.2:c.302G>C	NP_001307798.1:p.Gly101Ala