Canonical Allele Identifier: CA391617441

Gene: SLC12A6

Linked Data

• MyVariant Identifiers: chr15:g.34528222A>G (hg19) ; chr15:g.34236021A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34236021A>G , CM000677.2:g.34236021A>G	GRCh38
NC_000015.9:g.34528222A>G , CM000677.1:g.34528222A>G	GRCh37
NC_000015.8:g.32315514A>G	NCBI36
NG_007951.1:g.107044T>C , LRG_270:g.107044T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000354181.8:c.3221T>C MANE Select	ENSP00000346112.3:p.Met1074Thr
ENST00000676379.1:c.3221T>C	ENSP00000502539.1:p.Met1074Thr
ENST00000290209.9:c.3068T>C	ENSP00000290209.5:p.Met1023Thr
ENST00000354181.7:c.3221T>C	ENSP00000346112.3:p.Met1074Thr
ENST00000397702.6:c.3044T>C	ENSP00000380814.2:p.Met1015Thr
ENST00000397707.6:c.3176T>C	ENSP00000380819.2:p.Met1059Thr
ENST00000458406.6:c.3044T>C	ENSP00000387725.2:p.Met1015Thr
ENST00000558589.5:c.3194T>C	ENSP00000452776.1:p.Met1065Thr
ENST00000558667.5:c.3221T>C	ENSP00000453473.1:p.Met1074Thr
ENST00000559523.5:c.*244T>C	ENSP00000452904.1:n.*244T>C
ENST00000559664.5:c.*430T>C	ENSP00000453702.1:n.*430T>C
ENST00000560164.5:c.2657T>C	ENSP00000452705.1:p.Met886Thr
ENST00000560611.5:c.3221T>C	ENSP00000454168.1:p.Met1074Thr
ENST00000561080.5:c.*459T>C	ENSP00000454069.1:n.*459T>C
NM_001042494.1:c.3044T>C	NP_001035959.1:p.Met1015Thr
NM_001042495.1:c.3044T>C	NP_001035960.1:p.Met1015Thr
NM_001042496.1:c.3194T>C	NP_001035961.1:p.Met1065Thr
NM_001042497.1:c.3176T>C	NP_001035962.1:p.Met1059Thr
NM_005135.2:c.3068T>C , LRG_270t1:c.3068T>C	NP_005126.1:p.Met1023Thr
NM_133647.1:c.3221T>C , LRG_270t2:c.3221T>C	NP_598408.1:p.Met1074Thr
XM_006720793.2:c.3074T>C	XP_006720856.1:p.Met1025Thr
XM_011522267.1:c.3221T>C	XP_011520569.1:p.Met1074Thr
XM_011522268.1:c.3221T>C	XP_011520570.1:p.Met1074Thr
XR_429476.2:n.3227T>C
NM_001365088.1:c.3221T>C MANE Select	NP_001352017.1:p.Met1074Thr
XM_006720793.4:c.3074T>C	XP_006720856.1:p.Met1025Thr
XR_931960.3:n.4500T>C
NM_001042494.2:c.3044T>C	NP_001035959.1:p.Met1015Thr
NM_001042495.2:c.3044T>C	NP_001035960.1:p.Met1015Thr
NM_001042496.2:c.3194T>C	NP_001035961.1:p.Met1065Thr
NM_001042497.2:c.3176T>C	NP_001035962.1:p.Met1059Thr
NM_133647.2:c.3221T>C	NP_598408.1:p.Met1074Thr